The mechanism of occurrence and development of connective tissue dysplasia in children depends on the following reasons:

• unconditional (congenital) - genetic mutations in the formation of the composition and amount of collagen in the connective tissue;
• conditional (acquired during life) - poor ecology, domestic accidents, poor-quality food, etc.

Connective tissue (CT) is present in all organs human body, but most of it is concentrated in the musculoskeletal system. It ensures normal joint mobility. It consists of:

• different types protein - collagen, elastin, fibrillin, etc.;
• cells;
• interstitial fluid.

Connective tissue has a different structure and density, it depends on which organ it is located in. Collagen gives density, and elastin makes tissues loose. Genes are responsible for the process of protein synthesis. When a violation occurs at the gene level, a mutation, collagen and elastin chains are formed incorrectly - their length decreases or increases.

So, connective tissue dysplasia is a genetic disease caused by the negative impact of various factors on the fetus developing in the womb. The causes of mutations include:

• ecological situation;
• mother's bad habits;
• errors in nutrition during pregnancy;
• poisoning chemicals, intoxication;
• stress;
• lack of magnesium in the body of a pregnant woman;
• toxicosis.

Classification of connective tissue dysplasia

Disagreements among scientists do not allow science to identify a common typology. Connective tissue dysplasia is classified in many ways. The following classification is preferred by most medical professionals who are directly related to the treatment of CTD in children, and not its study.

According to heredity, the following types are distinguished:

1. differentiated dysplasia - a genetically determined disease transmitted through the family line;
2. undifferentiated dysplasia - the absence of the fact of hereditary transmission of the disease, but the presence of its external and internal signs.

An example of one of the symptoms of DST is shown in the photo.

hypermobile hand

The first group includes studied gene mutations. In sick children, there are clearly signs of a certain syndrome:

• Muffana;
• Shergen;
• Alport;
• flaccid skin;
• joint hypermobility;
• disease of the "crystal man".

Such pathologies are detected using genetic studies. The disorder often affects one or more organs. The disease poses a threat to the life of children. According to statistics, such genetic mutations are rare.

Undifferentiated CTD in children is a common occurrence. It is more difficult to identify such a pathology, since the CT of the whole body is subject to changes, and it is impossible to attribute the disease to one of the above syndromes. Patients have disorders in several organs and systems of the body at once:

To confirm the diagnosis of undifferentiated CTD in a person, it is necessary to find out if the patient's symptoms and complaints are related to any syndrome caused by gene mutations. At risk are children and young women under the age of 35.

Children diagnosed with CTD are treated comprehensively. Doctors recommend sticking to a diet in order to enrich the diet with protein foods. Fried, fatty foods, pickles are excluded from the menu; children are allowed to consume sweets in moderation. Enter into the diet:

Compliance with the daily regimen is a mandatory item in treatment. You need to sleep 8-9 hours a day.

The therapy also includes gymnastics. The patient is advised to go swimming, table tennis or badminton. Weightlifting, stretching, boxing are inappropriate sports.

In addition, the child is prescribed physiotherapy. These include:

• mud, hydrogen sulfide, iodine-bromine baths;
• visiting the salt room;
• massotherapy;
• acupuncture.

Treatment of connective tissue dysplasia includes medication. They contribute to better collagen production, stimulate metabolic processes, strengthen the patient's immunity. List of drugs:

• Rumalon;
• Chondrotin sulfate;
• vitamin C;
• magnesium preparations;
• Osteogenon;
• Glycine;
• Lecithin.

Individual patients are recommended to wear a bandage or insoles with an arch support. In adolescence, the child needs the help of a psychologist, because children are constantly under stress. It is important for parents to support them. In some cases, surgical intervention may be required when the vessels have undergone significant changes, as well as when the hip is dislocated.

Connective tissue dysplasia is not a sentence. With such a diagnosis, children live a normal life, but constant efforts are required so that the disease does not progress. It is important to undergo an annual examination and follow all the doctor's prescriptions, undergo treatment in a sanatorium.

There is no single classification of DST. Dysplasia is classified according to several factors. Below are two common classifications - by type and by syndrome.

By type, the disease is divided into:

1. Differentiated connective tissue dysplasia (DDST) is a subspecies of dysplasia, in which the syndromes of organs and affected areas characteristic of the type are clearly traced. The group includes: Marfan syndrome, Ehlers-Danlos syndrome, Alport syndrome, osteogenesis imperfecta. DDST is found in childhood less often, quickly determined by the doctor due to severe symptoms.
2. Undifferentiated connective tissue dysplasia (NDCT) - affects a vast area of ​​​​organs, carries a defective development of connective tissue. If a child complains of a number of types of pain at once, and doctors in each specialization make their own diagnoses, you should think about dysplasia. The following is a brief list of symptoms that characterize the NDS syndrome:

• Complaints of the child on pain in the joints.
• Fatigue, loss of concentration.
• Frequent respiratory diseases.
• Vision change.
• Problems with the gastrointestinal tract (constipation, dysbacteriosis, bloating, abdominal pain).
• Diagnosis of muscular hypotension, flat-valgus feet, clubfoot, scoliosis.
• Excessive thinness, poor appetite.

Even with these symptoms, children with CTD grow mobile. If you suspect that a child has a syndrome, you should contact the clinic, where they will offer a set of laboratory tests, consultations of the necessary doctors, who, led by the attending pediatrician, will make a diagnosis and prescribe treatment.

Each case of CTD is unique and is accompanied by a number of syndromes, it was decided to classify dysplasia according to the totality of symptoms:

• Arrhythmic syndrome, includes incorrect work of the heart.
• The syndrome of autonomic dysfunction manifests itself through sympathicotonia, vagotonia.
• Vascular syndrome: damage to the arteries.
• Syndrome of immunological disorders: immunodeficiency, allergic syndrome.
• Vision pathology syndrome.

Connective tissue dysplasia in children

CTD has so many different manifestations that they are often associated with other diseases when considered alone. Only a comprehensive study of the manifestations of the disease will help to recognize the true cause of poor health in a child. Symptoms of the disease are divided into 2 types: phenotypic and visceral.

Hip dysplasia is a deviation, disorder or pathology in the development of articular structures in the pre- and postnatal periods, the result of which is an incorrect spatial-dimensional configuration of the joint (correlation and juxtaposition of the acetabulum and the femoral head). The causes of the disease are varied, including may be due to genetic factors, such as connective tissue dysplasia.

In medicine, it is customary to distinguish three forms of development of DTS - pre-dislocation (or the stage of an immature joint), subluxation (the stage of initial morphological changes in the joint) and dislocation (pronounced morphological changes in the structure).

The joint at the pre-dislocation stage has a stretched, weak capsule, and the femoral head freely dislocates and returns to its place (slip syndrome). Such a joint is considered immature - formed correctly, but not fixed. The prognosis for children with this diagnosis is the most positive if the defect is noticed in time, and the therapeutic intervention began on time and was carried out effectively.

The joint with subluxation has a displaced femoral head: its displacement in relation to the acetabulum can occur to the side or upward. At the same time, the general arrangement of the cavity and the head is preserved, the latter does not violate the limits of the limbus - the cartilaginous plate of the cavity. Competent and timely therapy implies a high probability of the formation of a healthy, full-fledged joint.

The joint in the dislocation stage is, in all respects, a displaced femoral head, the contact between it and the cavity is completely lost. This pathology can be both congenital and the result of incorrect / ineffective treatment of earlier stages of dysplasia.

External signs for making a preliminary diagnosis of DTS in infants:

• quantitative limitation in hip abduction;
• shortened thigh - with the same position of the legs, bent at the knees and hip joints, the knee on the affected side is located lower;
• asymmetry of the gluteal, under the knees and inguinal folds on the legs of the child;
• Marx-Ortolani symptom (also called the click or slip symptom).

If an external examination gives positive results for diagnosing DTS, then an accurate diagnosis is made according to the results of ultrasound and X-ray examination (after 3 months).

Confirmed hip dysplasia is treated, depending on the general form and secondary features, with the help of Pavlik stirrups, plaster garters, other functional devices and physiotherapy, in case of severe pathologies - with surgical methods.

Symptoms of connective tissue dysplasia

Symptoms of CTD are divided into phenotypic (external) and visceral (internal).

Phenotypic symptoms:

• Constitutional features of the body structure, non-standard development of the bone skeleton. Big feet.
• Curvature of the spine, scoliosis.
• Incorrect bite, violation of the symmetry of the face.
• Flat feet, clubfoot.
• The skin is dry, prone to excessive extensibility. The epithelium is susceptible to striae, pigmentation, and capillaries. Tendency to varicose veins veins.

Visceral symptoms:

• damage to the CNS, autonomic nervous system.
• Frequent headaches, migraine.
• Problems with the genitourinary system, enuresis, nephroptosis. In women with DST syndrome, uterine prolapse and frequent miscarriages are often recorded.
• Excitability, increased anxiety.
• Gastrointestinal area affected respiratory system, vision.

General disorders in CTD allow you to divide the symptoms into certain groups:

• arrhythmic syndrome: abnormal contractions of the heart or its individual chambers;
• asthenic syndrome: increased fatigue, inability to endure the usual physical or psycho-emotional stress for a person;
• bronchopulmonary DST: causeless bouts of coughing, heavy breathing, shortness of breath, suffocation or a feeling of having a foreign object in the throat, stabbing pains in the lungs, accumulation of poorly expectorated sputum in them;
• vertebrogenic syndrome: frequent headaches, migraines, dizziness, semi-consciousness, intervertebral hernia, pain radiating to the buttock, shoulder or arm, weakness, loss of sensation in the legs, colic in the chest with a long stay in one position, etc .;

Connective tissue dysplasia can occur without visible symptoms, and can make itself felt by various disorders in the body.

• visceral syndrome: pain in the kidneys, prolapse of the elements of the gastrointestinal tract, genital organs in women;
• hemorrhagic dysplasia;
• valvular DST: disturbances in the functioning of the heart valves;
• cosmetic syndrome: asymmetry of the face, jaws, palate, deformation of the limbs, skin (thin skin, easily injured);
• mental disorder: disorders, depression, anorexia, increased anxiety, hypochondria;
• syndrome of neurological disorders: vegetative-vascular dystonia;
• vascular DST: damage to arteries and veins;
• sudden death syndrome sudden death syndrome: first aid for a baby);
• syndrome of deviations in the organ of vision: myopia, hyperopia, change in the shape of the lens, detachment of the cornea;
• syndrome of pathologies of the foot: clubfoot, flat feet, hollow foot (see also: massage for flat feet in children at home);
• syndrome of increased joint mobility: instability of the joints of the limbs, their parts, dislocations, subluxations;
• thoracophrenic syndrome: deformation and change of the chest, diaphragm, spine (see also: funnel and keeled deformity chest in children);
• thoracophrenic heart (cor pulmonale);
• fibrous dysplasia: excessive growth of cells in the walls of the vessels of muscle tissue, carotid arteries or kidney.

Diagnosis of connective tissue dysplasia

The diagnosis of CTD is made on the basis of a comprehensive examination of the child. The doctor examines the patient's history, and then conducts an examination. He assesses the degree of joint mobility, focusing on the Bayton scale, takes measurements of chest, head, foot and limb length.

Will have to do:

• ECG to detect heart pathologies;
• ultrasound examination of internal organs;
• echocardiography;
• x-ray of the joints and chest area.

The pediatrician should interact with narrow specialists - a cardiologist, pulmonologist, gastroenterologist, orthopedist and neuropathologist when making a diagnosis. If the results of the study confirm connective tissue dysplasia, appropriate therapy will be prescribed.

Treatment may include taking medications, proper physical activity and exercise, good nutrition, and the use of folk remedies.

If connective tissue dysplasia is suspected, the doctor prescribes a clinical and genealogical study, including clinical studies, family history and genetic analysis. A mandatory measurement of the child is carried out for the correspondence of the percentage of limbs in relation to the body, the size of the foot, the length of the arms, and the circumference of the head are measured.

The child is prescribed studies: EchoCG, ECG, ultrasound of the abdominal cavity, kidneys and liver, chest X-ray and joints.

With the results of research and analysis, consultations are held with a neurologist, gastroenterologist, pulmonologist, rheumatologist, neurologist, ophthalmologist, immunologist. A cardiologist also pays attention to patients, since the syndrome is often accompanied by disturbances in the work of the heart - constant noises, ischemia, heart rhythm disturbance, which leads to premature consumption of the adaptive reserves of the heart muscle. The cardiologist prescribes treatment, taking into account the diagnosis of CTD. The child's family is invited to undergo a medical genetic examination.

After receiving a picture of the disease, the doctor makes a diagnosis and determines the nature of the treatment. A genetic disease cannot be destroyed, it is quite possible to slow down or stop the development of dysplasia. But the treatment is supposed to be regular.

Complex therapy is designed specifically with age-specific considerations, adapted to children's and adolescence. Subject to the recommendations, a child with dysplasia lives a full life, no different from the rest.

Parents of children with connective tissue dysplasia require, first of all, together with the child:

The course includes drug treatment, which involves taking drugs that improve mineral metabolism, stimulate the natural production of collagen, improve the bioenergetic state and increase the immunity and resistance of the child's body. Preparations are adapted for children.

Compliance with a special diet is a factor influencing the positive dynamics in the fight against connective tissue dysplasia in children. The diet of the child includes foods containing protein, as it helps the natural production of collagen. The daily menu includes: fish, meat, legumes, nuts and dried fruits.

The diet for dysplasia excludes fast food, spicy, fried and fatty foods containing spices, as well as pickles and marinades. Overeating with sweets, pastries, confectionery is not allowed. Adults are not allowed to drink alcohol or smoke.

Separately, let's talk about the climate. It is worth refusing to live in hot climatic conditions and in conditions of high radiation.

An effective method of dealing with dysplasia in children is surgical treatment. The method is used exclusively for severe deformities of the musculoskeletal system and chest. Children with an obvious dislocation of the hip joint undergo open surgery for open reduction. Doctors advise to take expectant tactics for up to three years. At this age, it will be easier for the child to endure the effects of anesthesia.

In adolescence and youth, the patient needs psychological support. They are often worried about the future, this is due to frequent illnesses covering the body. The mobile brain of children draws terrible pictures in the imagination, a teenager often falls into depression. He is worried - fears are transformed into phobias.

In adolescence, the risk of developing anorexia nervosa and autism is fixed. They are hard to socialize. Already in adults with a diagnosis of connective tissue dysplasia, the standard of living decreases, with this type of dysplasia, a number of professions remain banned. Work associated with great emotional stress, hard physical labor, in workshops and factories where vibration and radiation, elevated temperatures are possible, at height and underground are strictly prohibited for people with connective tissue dysplasia.

Parents of such children need to be aware of the risks in order to capture the manifestation of symptoms in time with visits to a psychologist. It is important to surround the child with attention and care, constantly work on his self-esteem and other psychological aspects of the manifestation of the disease.

With connective tissue dysplasia, the main and decisive moment in the results will be an appointment with a doctor and proper treatment. Since this type of disease progresses over the years, dysplasia captured in childhood will not affect the normal life of the child.

Content

There are such internal disorders that lead to the emergence of a whole bunch of diseases in different areas - from diseases of the joints to problems with the intestines, and connective tissue dysplasia is a prime example of them. Not every doctor is able to diagnose it, since in each case it is expressed by its own set of symptoms, so a person can unsuccessfully treat himself for years, not suspecting what is happening inside him. Is this diagnosis dangerous and what measures should be taken?

What is connective tissue dysplasia

In a general sense, the Greek word "dysplasia" means a violation of education or development, which can be applied to both tissues and internal organs generally. This problem is always congenital, since it appears in the prenatal period. If connective tissue dysplasia is mentioned, it means a genetically heterogeneous disease characterized by a disturbance in the development of connective tissue. The problem is polymorphic in nature, predominantly occurs at a young age.

In official medicine, the pathology of the development of connective tissue can also be found under the names:

• hereditary collagenopathy;
• hypermobility syndrome.

Symptoms

The number of signs of connective tissue disorders is so great that one by one the patient can associate them with any disease: the pathology is reflected in most internal systems- from nervous to cardiovascular and even expressed in the form of unreasonable weight loss. Often, this type of dysplasia is detected only after external changes, or diagnostic measures taken by a doctor for other purposes.

Among the most striking and detected with a high frequency of signs of connective tissue disorders are:

• Autonomic dysfunction, which can manifest itself in the form of panic attacks, tachycardia, fainting, depression, nervous exhaustion.
• Heart valve problems, including prolapse, heart abnormalities, heart failure, myocardial pathology.
• Asthenization - the patient's inability to subject himself to constant physical and mental stress, frequent psycho-emotional breakdowns.
• X-shaped deformation of the legs.
• Varicose veins, spider veins.
• Joint hypermobility.
• hyperventilation syndrome.
• Frequent bloating due to digestive disorders, pancreatic dysfunction, problems with bile production.
• Pain when trying to pull back the skin.
• Problems with the immune system, vision.
• Mesenchymal dystrophy.
• Anomalies in the development of the jaw (including bite).
• Flat feet, frequent dislocations of the joints.

Doctors are sure that people who have connective tissue dysplasia have psychological disorders in 80% of cases. The mild form is depression, a constant feeling of anxiety, low self-esteem, lack of ambition, dissatisfaction with the current state of affairs, reinforced by an unwillingness to change anything. However, even autism can coexist with a diagnosis of connective tissue dysplasia syndrome.

In children

At birth, a child may be deprived of phenotypic signs of connective tissue pathology, even if it is collagenopathy, which has vivid clinical manifestations. In the postnatal period, defects in the development of connective tissue are also not excluded, so such a diagnosis is rarely made for a newborn. The situation is also complicated by the natural state of connective tissue for children under 5 years old, due to which their skin stretches too much, ligaments are easily injured, and hypermobility of the joints is observed.

In children older than 5 years, with suspected dysplasia, you can see:

• changes in the spine (kyphosis / scoliosis);
• chest deformities;
• poor muscle tone;
• asymmetrical shoulder blades;
• malocclusion;
• fragility of bone tissue;
• increased lumbar flexibility.

Causes

The basis of changes in the connective tissue is genetic mutations, therefore, its dysplasia in all forms can not be recognized as a disease: some of its manifestations do not worsen the quality of human life. Dysplastic syndrome is caused by changes in the genes that are responsible for the main protein that forms the connective tissue - collagen (less often - fibrillin). If a failure occurs during the formation of its fibers, they will not be able to withstand the load. Additionally, magnesium deficiency is not excluded as a factor in the appearance of such dysplasia.

Classification

Doctors today have not come to a consensus regarding the classification of connective tissue dysplasia: it can be divided into groups about the processes that occur with collagen, but this approach allows you to work only with hereditary dysplasia. The following classification is considered more universal:

• A differentiated disorder of the connective tissue, which has an alternative name - collagenopathy. Dysplasia is hereditary, the signs are clear, the diagnosis of labor disease is not.
• Undifferentiated connective tissue disorder - this group includes the remaining cases that cannot be attributed to differentiated dysplasia. The frequency of its diagnosis is many times higher, and in people of all ages. A person diagnosed with an undifferentiated connective tissue pathology often does not need treatment, but should be under medical supervision.

Diagnostics

A lot of controversial issues are associated with this kind of dysplasia, since specialists practice several methods in the issue of diagnosis. scientific approaches. The only point that is beyond doubt is the need for clinical and genealogical research, since connective tissue defects are congenital. Additionally, to clarify the picture, the doctor will need:

• systematize the patient's complaints;
• measure the body by segments (for connective tissue dysplasia, their length is relevant);
• evaluate joint mobility;
• let the patient try to grasp his wrist with his thumb and little finger;
• perform an echocardiogram.

Analyzes

Laboratory diagnosis of this type of dysplasia consists in studying a urine test for the level of hydroxyproline and glycosaminoglycans, substances that appear during the breakdown of collagen. Additionally, it makes sense to check the blood for frequent mutations in PLOD and general biochemistry (detailed analysis from a vein), metabolic processes in the connective tissue, markers of hormonal and mineral metabolism.

Which doctor treats connective tissue dysplasia

In children, the diagnosis and development of therapy ( entry level) is dealt with by a pediatrician, since there is no doctor who works exclusively with dysplasia. After that, the scheme is the same for people of all ages: if there are several manifestations of connective tissue pathology, you will need to take a treatment plan from a cardiologist, gastroenterologist, psychotherapist, etc.

Treatment of connective tissue dysplasia

There is no way to get rid of this diagnosis, since this type of dysplasia affects changes in the genes, however, complex measures can alleviate the patient's condition if he suffers from clinical manifestations of connective tissue pathology. The exacerbation prevention scheme is mainly practiced, which consists in:

• well-chosen physical activity;
• individual diet;
• physiotherapy;
• medical treatment;
• psychiatric care.

It is recommended to resort to surgical intervention for this type of dysplasia only in case of chest deformity, serious disorders of the spine (especially the sacral, lumbar and cervical regions). The syndrome of connective tissue dysplasia in children requires additional normalization of the daily regimen, the selection of constant physical activity - swimming, cycling, skiing. However, in professional sports a child with such dysplasia should not be given away.

Without the use of drugs

Doctors advise starting treatment with the exclusion of high physical activity, hard work, including mental. The patient annually needs to take a course of exercise therapy, if possible, having received a lesson plan from a specialist and performing the same actions on his own at home. Additionally, you will need to visit the hospital to undergo a set of physiotherapy procedures: ultraviolet irradiation, rubdowns, electrophoresis. It is not excluded the appointment of a corset that supports the neck. Depending on the psycho-emotional state, a visit to a psychotherapist may be prescribed.

For children with this type of dysplasia, the doctor prescribes:

• Massage of the limbs and back with an emphasis on cervical region. The procedure is carried out every six months, 15 sessions each.
• Wearing an arch support if a hallux valgus is diagnosed.

Diet

The emphasis in the diet of a patient who has been diagnosed with connective tissue pathology is recommended by experts to be on protein foods, but this does not imply the complete exclusion of carbohydrates. The daily menu for dysplasia must necessarily consist of lean fish, seafood, legumes, cottage cheese and hard cheese, supplemented with vegetables, unsweetened fruits. In a small amount in the daily diet, you need to use nuts. If necessary, a vitamin complex can be prescribed, especially for children.

Taking medication

Drinking drugs should be under the supervision of a doctor, since there is no universal pill for dysplasia and it is impossible to predict the reaction of a particular organism even to the safest medication. Therapy to improve the condition of the connective tissue with its dysplasia may include:

• Substances that stimulate the natural production of collagen - ascorbic acid, B-group vitamins and sources of magnesium (Magnerot).
• Drugs that normalize the level of free amino acids in the blood - Glutamic acid, Glycine.
• Means that help mineral metabolism - Alfacalcidol, Osteogenon.
• Preparations for the catabolism of glycosaminoglycans, mainly on chondroitin sulfate - Rumalon, Chondroxide.

Surgical intervention

Due to the fact that this pathology of the connective tissue is not considered a disease, the doctor will recommend the operation if the patient suffers from deformation of the musculoskeletal system, or dysplasia can lead to lethal outcome due to vascular problems. In children, surgical intervention is practiced less frequently than in adults, doctors try to get by with manual therapy.

Connective tissue dysplasia is a malfunction in the formation and development of connective tissue. May appear after birth, as well as at the stage of embryonic development. In medicine, dysplasia refers to any failure in the formation of organs and tissues of the body. The disorder may manifest postnatally or in utero. It develops due to genetic factors that affect the fibrous structure and the main substance of the connective tissue.

This pathology has other names, for example, congenital connective tissue insufficiency, "gutta-percha children", hypermobility syndrome, connective tissue dysplasia.

Since connective tissue is present in every area of ​​the body, mutation can occur anywhere. This happens because the collagen and elastin chains (which make up the connective tissue) are affected by improperly functioning mutated genes.

Etiology

The development of pathology occurs when the synthesis of elastin and collagen is impaired.

There are several reasons for the appearance of this disease, namely:

• Pathology develops in the course of certain mutations at the gene level. Therefore, connective tissue dysplasia diagnosed in children can be a hereditary disease.
• Some scientists suggest that connective tissue dysplasia has causes associated with a lack of magnesium in the body.

There are also some factors that affect the development of such a pathology:

• malnutrition of a pregnant woman, lack of vitamins;
• polluted environment;
• smoking and drinking before the intended pregnancy, drugs have a particular negative effect;
• a woman's stay in constant stress;
• pregnancy with complications;
• infectious diseases of the expectant mother.

Most of these factors that negatively affect health can provoke gene mutation at conception, respectively, connective tissue dysplasia that develops in children may appear. This can also include frequent and prolonged exposure to sunlight, as well as work associated with harmful substances.

Classification

Dysplasia that affects the connective tissue is divided into two types:

• Differentiated. It develops in the course of heredity according to a certain type. It has pretty clear symptoms. All her genetic defects and biochemical processes have been fully studied by scientists. All diseases that are associated with this form of dysplasia are called collagenopathies. They got their name because there are violations in the formation of collagen.
• Undifferentiated emerging connective tissue dysplasia. This form of dysplasia is diagnosed when the signs of a pathology that develops in a person cannot be attributed to a differentiated form. But this form is more common. Its appearance is observed in children and adolescents.

If a person is diagnosed with undifferentiated developing connective tissue dysplasia, then he is not considered sick. Unlike other people, these people often suffer from various pathologies. Therefore, they need to be registered with a doctor.

Symptoms

It should be noted that connective tissue dysplasia exhibits symptoms of a different nature. They can be mild or severe. In addition, all the symptoms shown will be individual for each patient.

However, there are also common symptoms:

• Pathologies of a neurological nature. These signs are observed in almost all patients. A person appears, dizziness, fainting occurs and much more.
• General weakness appears, efficiency decreases, psycho-emotional disorders occur.
• Violations in the work of the heart valves.
• Disturbances in the development of the bones of the chest. At the same time, its keeled deformation and funnel-shaped form are manifested. In some patients, the spine is deformed - this is.
• Damage to blood vessels. For example, a person develops, spider veins appear. Also, some suffer from a damaged inner layer of vascular cells.
• Sudden Death Syndrome is one of the worst symptoms. This can happen due to damage to the heart valves and blood vessels - the so-called syndrome of emerging dysplasia of the connective tissue of the heart.
• Critically low body weight.
• Increased joint mobility. In this case, a person can bend his finger in the opposite direction, straighten his knees and elbows in the joints.
• Changing the bones of the lower extremities so that the legs take the shape of the letter X.
• Malfunctions in the work of the gastrointestinal tract - the patient appears, pain in the abdomen, occurs, appetite decreases.
• Regular diseases of the ENT organs. With such a genetic pathology, a person often gets sick and.
• There is weakness in the muscles.
• The skin becomes dry, flabby, transparent. It can be easily retracted without experiencing any pain. For some people, the skin may fold unnaturally at the tip of the nose or on the pinna.
• appears.
• The jaws of the patient grow much more slowly than other bones, therefore they do not correspond to the proportions of the whole body.
• Allergic reactions occur.
• Often there are dislocations and subluxations of the joints.
• Develops.
• A person becomes depressed, he develops various phobias and.

Also, the patient begins to have psychological problems. Patients underestimate their abilities, they have low level claims.

Such patients are too anxious, prone to depression. All this is due to the strong vulnerability of patients. External defects that are clearly visible make them insecure. They are dissatisfied with their lives, do not show any initiative, are highly self-critical. Often these people have suicidal tendencies.

Against the background of all this, their standard of living is underestimated, socially they are poorly adapted. Some suffer.

Diagnostics

As you know, congenital connective tissue deficiency is a genetic disease. Therefore, it is necessary to diagnose it with the help of clinical and genealogical research.

However, doctors also use other methods, namely:

• Examine the patient's complaints. Basically, everyone has heart problems. In addition, abdominal pain appears, flatulence occurs and. Breathing becomes difficult because the walls of the bronchi and alveoli weaken. In the work of the joints, failures also occur. But you can not ignore the external cosmetic defects.
• An anamnesis of the disease is being collected. Such patients often undergo examinations by such narrow specialists as a gastroenterologist, cardiologist, ENT doctor, orthopedist.
• Doctors also use the "wrist test".
• Studied joint mobility. Basically they are hypermobile.
• Laboratory analysis of daily urine is carried out.
• You can also determine the content of calcium and phosphorus in the blood.

In general, diagnosing such a pathology is not very difficult. If the examination is carried out by a doctor with extensive experience, he can understand at a glance what the patient's problem is.

Treatment

It must be understood that the treatment of connective tissue dysplasia will not help a person completely get rid of the pathology. But if you use complex therapy, then there is a chance to slow down the processes of further development of the disease, which, in turn, will greatly facilitate the life of the patient.

The main methods of treatment are as follows:

• Physiotherapeutic procedures and performance of special physical exercises.
• A certain diet for diagnosed connective tissue dysplasia. It consists in the use of seafood, meat, fish, legumes. More fresh vegetables and fruits, hard cheese. With the permission of the doctor, active biological supplements can also be used.
• The appointment of drugs that restore metabolic processes, as well as those drugs that will stimulate the production of collagen. Recommend such means as Mexidol, Actovegin, Kudesan.
• Carrying out the operation. During surgery, the chest and musculoskeletal system will be corrected.

The operation is performed only in cases where the deformation poses a threat to the life or health of the patient. It is also prescribed to eliminate a visible cosmetic defect.

The doctor also prescribes certain medicines, namely:

• Ascorbic acid and magnesium. They promote collagen production.
• Rumalon - restores the intercellular substance.
• Osteogenon - stabilizes the metabolic process in the connective tissue of the body.
• Glycine - improves brain function, calms the nervous system, restores the level of amino acids.
• Lecithin - will give the child energy and support overall well-being.

You should not take these drugs yourself: they should be prescribed only by an experienced specialist.

Contraindications

A person who suffers from connective tissue pathology should not:

• endure stress and psychological pressure;
• heavy physical labor - this refers to work with high temperature, vibration or radiation;
• engage in contact sports, weightlifting;
• stretch the spine with hypermobility of the joints;
• live in hot countries.

If the therapy of this pathology is complex, then the result of the treatment will be positive. The doctor should establish psychological contact with the patient, and not try to use only drugs and physical exercise. The result of any treatment will be positive when the patient himself seeks to recover.

Possible Complications

It must be said that dysplasia has a negative impact on other diseases of the patient. Because of this, his condition only worsens.

In order for a person not to have complications, he needs:

• refuse to engage in heavy sports;
• choose a job that is not related to vibration;
• avoid nervous strain.

By following the above requirements, you can reduce the risk of complications.

Forecast and prevention

The pathology of the connective tissue is not completely treated, but if complex therapy is started on time, then the prognosis will be favorable.

For this you need:

• strictly follow all the recommendations and prescriptions of the doctor;
• balance your diet
• to refuse from bad habits;
• woman before the expected pregnancy to start healthy lifestyle life;
• avoid ;
• get hurt less.

If a woman adheres to preventive recommendations, then the risk of connective tissue pathology will decrease.

For citation: Tvorogova T.M., Vorobieva A.S. Undifferentiated connective tissue dysplasia from the standpoint of diselementosis in children and adolescents // RMJ. 2012. No. 24. S. 1215

The uniqueness of the structure and functions of the connective tissue creates conditions for the occurrence of a huge number of its anomalies and diseases caused by gene defects that have a certain type of inheritance, or due to mutagenic effects of adverse environmental factors in the fetal period (unfavorable environmental conditions, unbalanced nutrition, stress, etc.) .

Connective tissue dysplasia (CTD) is a genetically determined violation of its development, characterized by defects in its basic substance and fibers. Currently, among the main causes of CTD, there are changes in the rate of synthesis and assembly of collagen and elastin, the synthesis of immature collagen, a violation of the structure of collagen and elastin fibers due to their insufficient cross-linking. This indicates that in CTD, connective tissue defects in their manifestations are very diverse.
These morphological disorders are based on hereditary or congenital mutations of genes that directly encode connective tissue structures, enzymes and their cofactors, as well as unfavorable environmental factors. In recent years, special attention has been drawn to the pathogenetic significance of diselementosis, in particular hypomagnesemia. In other words, DST is a multi-level process, since it can manifest itself at the gene level, at the level of an imbalance in enzymatic and protein metabolism, as well as at the level of a violation of the homeostasis of individual macro- and microelements.
There are two groups of DST. The first group includes rare differentiated dysplasias with a known gene defect of a certain type of inheritance and with a clear clinical picture (Marfan syndrome, Ehlers-Danlos syndrome, osteogenesis imperfecta, etc.). These diseases are classified as hereditary collagen diseases - collagenopathies.
The second group consists of undifferentiated DST (NDST), the most common in pediatric practice. Unlike differentiated dysplasia, UCTD is a genetically heterogeneous pathology caused by changes in the genome due to multifactorial effects on the fetus in utero. In the vast majority of cases, the gene defect in UCTD remains unidentified. The main characteristic of these dysplasias is a wide range of clinical manifestations without a definite clear clinical picture. UCTD is not a nosological unit, and there has not yet been a place for it in ICD-10.
A classification of external and internal signs (hair dryers) of UCCT has been developed. External signs are divided into skeletal, skin, articular and minor developmental anomalies. Internal signs include dysplastic changes in the nervous system, visual analyzer, cardiovascular system, respiratory organs, and abdominal cavity (Fig. 1).
It is noted that the syndrome of vegetative dystonia (VD) is one of the first to form and is an obligatory component of DST. Symptoms of autonomic dysfunction are observed already in early age, and in adolescence are noted in 78% of cases of UCTD. The severity of autonomic dysregulation increases in parallel with the clinical manifestations of dysplasia. In the formation of vegetative shifts in CTD, both genetic factors underlying the violation of biochemical processes in the connective tissue and the formation of abnormal connective tissue structures are important, which together changes the functional state of the hypothalamus and leads to autonomic imbalance.
The features of CTD include the absence or weak severity of phenotypic signs of dysplasia at birth, even in cases of differentiated forms. In children with a genetically determined condition, markers of dysplasia appear gradually throughout life. Over the years, especially under unfavorable conditions (environmental conditions, nutrition, frequent intercurrent diseases, stress), the number of dysplastic signs and their severity increase progressively, because. initial changes in homeostasis are exacerbated by these environmental factors. First of all, this concerns the homeostasis of individual macro- and microelements that are directly involved in the synthesis of collagen, collagen and elastin fibers, as well as in the modulation of the activity of enzymes that determine the rate of synthesis and the quality of connective tissue structures.
This applies primarily to such macronutrients as magnesium and calcium and essential microelements - copper, zinc, manganese, and conditionally essential - boron. Among the variety of metabolic functions of these elements in the body, one should single out their direct participation in the processes of collagen formation, as well as in the formation, normal development of the skeleton and maintaining its structure.
At present, the effect of magnesium deficiency on the structure of connective and bone tissue, in particular, on collagen, elastin, proteoglycans, collagen fibers, as well as on the mineralization of the bone matrix, has been proven. The available literature data indicate that the effect of magnesium deficiency on the connective tissue leads to a slowdown in the synthesis of all structural components, an increase in their degradation, which significantly worsens the mechanical characteristics of the tissue.
Magnesium deficiency has no pathognomonic clinical signs. However, the polysymptomatic nature of this condition allows, based on the clinical picture, with a high degree of probability to suspect its deficiency in the patient.
Magnesium deficiency for several weeks can lead to pathology of the cardiovascular system, manifested by angiospasm, arterial hypertension, myocardial dystrophy, tachycardia, arrhythmia, an increase in the QT interval, and a tendency to thrombosis; to neuropsychiatric disorders, manifested in the form of reduced attention, depression, fears, anxiety, autonomic dysfunction, dizziness, migraine, sleep disturbances, paresthesia, muscle cramps; visceral manifestations of deficiency include bronchospasm, laryngospasm, hyperkinetic diarrhea, spastic constipation, pylorospasm, nausea, vomiting, biliary dyskinesia, diffuse abdominal pain.
Chronic magnesium deficiency for several months or more, along with the above symptoms, is accompanied by a pronounced decrease in muscle tone, sharp asthenia, connective tissue dysplasia and osteopenia.
Due to its many clinical effects, magnesium is widely used as a medicinal product with various diseases.
The role of calcium and magnesium as the main elements involved in the formation of one of the types of connective tissue - bone tissue is well known. It has been proven that magnesium significantly improves the quality of bone tissue, because. its content in the skeleton is 59% of the total content in the body (Fig. 2). It is known that magnesium directly affects the mineralization of the organic bone matrix, collagen formation, the functional state of bone cells, vitamin D metabolism, as well as the growth of hydroxyapatite crystals. In general, the strength and quality of connective tissue structures largely depend on the presence of a balance between calcium and magnesium. With magnesium deficiency and normal or elevated calcium levels, the activity of proteolytic enzymes - metalloproteinases - enzymes that cause remodeling (degradation) of collagen fibers, increases, regardless of the causes that caused abnormalities in the structure of the connective tissue, which leads to excessive degradation of the connective tissue, resulting in severe clinical manifestations of UCTD.
The homeostasis of magnesium and calcium in the body depends on the adsorption of elements in the intestine, the process of reabsorption in the renal tubules, hormonal regulation and the diet, because. the latter is the only source of their entry into the body.
Magnesium regulates the body's use of calcium. Insufficient intake of magnesium in the body leads to the deposition of calcium not only in the bones, but also in soft tissues and various bodies. Excess consumption of food rich in magnesium interferes with the absorption of calcium and causes increased excretion. The ratio of magnesium and calcium is the main proportion of the body, and this must be taken into account in the recommendations to the patient on rational nutrition. The amount of magnesium in the diet should be 1/3 of the calcium content (on average, 350-400 mg of magnesium per 1000 mg of calcium).
Fundamental studies of microelements carried out in recent decades have revealed their significance in the biochemical processes underlying the formation of connective tissue. It has been proven that many trace elements are integral components of enzyme systems, the activity of which determines the metabolism of connective tissue, the processes of synthesis and remodeling of its structural components.
Copper determines the activity of the enzyme lysyl oxidase, which is involved in the formation of cross-links of collagen and/or elastin chains, which gives the connective tissue matrix maturity, firmness and elastic properties. Zinc is necessary for the functioning of many metalloenzymes that regulate collagen remodeling in connective and bone tissues. Manganese activates a number of enzymes that are directly involved in the synthesis of the main connective tissue proteins - proteoglycans and collagen, i.e. those proteins that determine the growth and structure of bone, cartilage, connective tissues in the body.
The role of boron is significant in the processes of osteogenesis, due to its effect on the metabolism of vitamin D, as well as the regulation of the activity of parathyroid hormone, which is known to be responsible for the exchange of calcium, phosphorus and magnesium.
In the clinical aspect, the literature data concerning the study of microelements in children and adolescents are mainly devoted to the study of microelementoses under the influence of various environmental factors, as well as in disharmonious physical development, pathology of the urinary system, chronic diseases gastroduodenal zone, atopic dermatitis, somatovegetative and neuropsychiatric disorders, organic pathology of the central nervous system. Studies conducted by American scientists have shown that a deficiency of elements such as copper, boron, manganese, zinc and magnesium leads to an increase in the number of bone deformities. It was noted that over the past 10 years, the frequency of the above pathology has increased by 46.96%.
In the literature search for information about the study of a complex of microelements directly involved in the formation of structural components of connective tissue and osteogenesis (boron, copper, manganese, zinc), we failed to find in DST. There is only a single study of the balance of individual trace elements (boron, zinc) in dysplastic-dependent connective tissue pathology in children.
60 children and adolescents aged 9-17 years hospitalized in the somatic department of the Tushinskaya Children's City Hospital in Moscow for VD were examined by random sampling. The examined children and adolescents were divided into two groups depending on the presence of UCTD. The main group consisted of 30 patients with UCTD (Group 1), the comparison group consisted of 30 people who had no signs of CTD (Group 2). External and somatic signs of UCTD in the examined patients of the 1st group are shown in Table 1.
Our studies of a complex of microelements in hair (boron, copper, manganese, zinc), calcium content in urine, bone mineral density (BMD) revealed pronounced changes in elemental homeostasis in patients with UCTD. The average content of microelements in patients of the 1st and 2nd groups is shown in Table 2. Analysis of the data obtained showed that in patients of the 1st group there was an imbalance in the microelement status, which was characterized by significant changes in the studied microelements (p<0,05). При этом отмечено значимое снижение содержания бора и марганца, сочетающееся с повышением уровня меди и цинка. Во 2-й группе определялась лишь тенденция к повышению меди и цинка в сочетании со снижением уровня марганца, содержание бора оставалось в норме.
The pronounced deficiency of boron and manganese in the 1st group and a significant decrease in manganese in the 2nd group can be explained not only by the low intake of microelements from food, but also by their dependence on the level of calcium and magnesium in the body. It is known that in children and adolescents during the period of active growth and the formation of peak bone mass, the rate of consumption of these macronutrients in the body increases. This may be one of the reasons for the pathological decrease in the absorption of other biologically active substances, in particular individual microelements (boron, manganese) and, accordingly, their deficiency in the body. In addition, there is a point of view that in case of magnesium deficiency, manganese is able to replace it in the active centers of individual enzymes involved in collagen synthesis and osteogenesis, and perform the same functions. From the foregoing, it follows that magnesium deficiency leads to a decrease in the content of manganese in the body.
The observed significant increase in the content of zinc and copper in the hair in patients of the 1st group is probably due to a decrease in the level of calcium in the body. There is evidence that calcium deficiency accelerates the rate of zinc accumulation in hair in children with UCTD. It is obvious that the threshold values ​​of calcium intake lead to inhibition of the exchange of zinc and copper, because. their participation in the synthesis of collagen, the formation of bone tissue and other vital functions is possible only with an adequate supply of calcium to the body.
When determining the daily intake of calcium, its insufficient content in the diet in patients of the 1st and 2nd groups was revealed. The average daily intake of calcium in the 1st group was 425±35 mg, in the 2nd group - 440±60 mg, with the standard daily requirement at the age of 10-18 years 1200 mg.
There was a clear decrease in calcium excretion in the morning portion of urine in patients of the 1st group (1.2 + 0.02 mmol / l at a rate of 2.5-6.2), which is a reflection of a pronounced deficiency of the mineral in the body and suggests that the need for calcium in UCTD is much higher than in its absence.
Calcium deficiency was also confirmed by the results of a densitometric study, which revealed a decrease in bone mineralization in 18 patients of the 1st group and in 8 people from the 2nd group (Fig. 3). Analysis of the results showed that the degree of bone tissue demineralization corresponded to osteopenia, however, osteoporosis was diagnosed in 17% of adolescents in the 1st group. These adolescents did not have somatic diseases capable of causing a pathological decrease in bone mass, therefore, the identified osteoporosis was not considered as transient. The manifestation of UCTD in them was the maximum number of external phenotypic traits in combination with 2-3 somatic traits, the severity of shifts in the content of all four studied microelements drew attention.
Thus, the studies of calcium homeostasis are an argument confirming the effect of calcium deficiency on the formation of microelementosis, and dictate the need for calcium supplementation in balance with magnesium in patients with UCTD. Literature data and the results of our own research indicate the importance of diselementosis in the development of UCTD, and this probably allows us to consider CTD as one of the clinical variants of diselementosis.
From the foregoing, it follows that in order to eliminate connective tissue defects and prevent the progression of dysplasia, correction of diselementosis is necessary. Restoration of disturbed elemental homeostasis is achieved by rational nutrition, dosed physical activity, which improves the absorption of macro- and microelements, as well as the use of magnesium, calcium, microelements and vitamins. Food sources of magnesium, calcium and trace elements (manganese, copper, zinc, boron) are shown in Table 3.
Currently, UCTD therapy with magnesium-containing drugs is pathogenetically substantiated. Replenishment of magnesium deficiency in the body leads to a decrease in the activity of the above metalloproteinase enzymes and, accordingly, to a decrease in degradation and an acceleration of the synthesis of new collagen molecules. The results of magnesium therapy in children with UCTD (mainly with mitral valve prolapse, with arrhythmic syndrome on the background of autonomic dysfunction) showed their high efficiency.
In pediatric practice, various magnesium-containing preparations are widely used, differing in their chemical structure, the level of magnesium content and methods of administration.
The possibilities of prescribing inorganic magnesium salts for long-term oral therapy are limited due to the extremely low absorption in the gastrointestinal tract and the ability to cause diarrhea. In this regard, preference is given to an organic magnesium salt (a compound of magnesium with orotic acid), which is well adsorbed in the intestine, and only when high doses are used, a side effect in the form of an unstable stool is possible.
The magnesium salt of orotic acid is available in 500 mg tablets (32.8 mg of elemental magnesium) under the name Magnerot (Woerwag Pharma, Germany). The use of orotic magnesium salt is justified due to the fact that orotic acid is able to fix intracellular magnesium in mitochondria, where only in the presence of magnesium ions is it possible to synthesize ATP, which determines the functional state and viability of every cell in the body, including connective tissue. Moreover, orotic acid, participating in the synthesis of nucleic acids, has an anabolic effect by stimulating the synthesis of proteins, including the main proteins of connective tissue, in which it is synergistic with magnesium. The recommended doses of Magnerot according to age are presented in Table 4.
We evaluated the effectiveness of magnesium therapy in 24 children and adolescents, in whom one of the UCTD hair dryers was vegetative dystonia, which proceeded with cardiac changes. The duration of the course of treatment was 3 weeks.
The nature of the complaints was mostly non-specific, with fatigue, irritability, anxiety, emotional lability, headache, and difficulty falling asleep being the most common. Adolescents with VD of the sympathicotonic and mixed type had arterial hypertension of the 1st degree (in 9 people) and labile AH (in 5 people).
Cardiac complaints were minor and were expressed by short-term cardialgia in 25% of patients, palpitations - in 12.5%, a feeling of increased heart contractions that appeared at the time of physical exertion and during excitement, less often at rest - in 8% of patients. However, when analyzing the ECG, changes were detected in almost all subjects. During the examination, organic heart pathology and symptomatic hypertension were excluded. During the period of therapy, patients did not receive drugs that improve myocardial trophism, antiarrhythmic, antihypertensive and vegetotropic drugs.
After completion of the course of magnesium therapy, cardiac complaints completely disappeared, sleep returned to normal, manifestations of emotional and behavioral disorders decreased. The use of magnesium therapy was accompanied by a hypotensive effect in all patients with hypertension. Complete normalization of blood pressure occurred in 62% of cases. In 5 patients with 1st degree hypertension, only a tendency to decrease in blood pressure was noted.
When evaluating the ECG, a clear positive trend was revealed, expressed in the normalization of the T wave (66%), the complete disappearance of the U wave, a decrease in T wave inversion (14%), a change in T wave inversion to its flattening (9.5%), positive dynamics of sinus tachycardia with normalization of heart rate (62.5%), the disappearance of extrasystole, normalization of the QT interval, the absence of nonspecific depression of the ST segment. However, in 11.5% of patients, sinus tachycardia turned out to be torpid to the therapy. There was no significant ECG dynamics in bradyarrhythmia against the background of pacemaker migration in 8% of patients (Table 5).
Assessing the effectiveness of magnesium therapy for the correction of neurovegetative dysregulation in patients with UCTD, it can be concluded that the positive dynamics of psychoemotional disorders, ECG changes, up to the complete normalization of individual parameters, occurs with a 3-week course of treatment. However, with sinus tachycardia, impaired repolarization processes with T-wave inversion, stable arterial hypertension, longer treatment periods are required. If it is necessary to prescribe cardiotrophic, antihypertensive and vegetotropic drugs, magnesium preparations should be recommended as a component of combination therapy.
Thus, the reduction of one of the clinical manifestations of UCTD - autonomic dysfunction, against the background of magnesium therapy is one of the facts confirming the importance of diselementosis in the development of CTD. The results of the study of elemental homeostasis indicate the need for its correction using magnesium, calcium, trace elements as a pathogenetic therapy that can prevent the progression of UCTD in children and adolescents. 2. Shilyaev R.R., Shalnova S.N. Connective tissue dysplasia and its relationship with the pathology of internal organs in children and adults // Vopr. modern pediatrics. - 2003. - No. 5 (2). - S. 61-67.
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4. Gromova O.A. Molecular mechanisms of magnesium effect on connective tissue dysplasia // Dysplasia connect. fabrics. - 2008. - No. 1. - S. 23-32.
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11. Frolova T.V., Okhapkina O.V. Features of microelement balance in dysplastic-dependent pathology of undifferentiated connective tissue dysplasia in children. Ros. Sat. scientific works from the international participation “Pediatric aspects of connective tissue dysplasia. Achievements and prospects”. - Moscow-Tver-St. Petersburg, 2010. - S. 86-91.
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Often, diseases are hereditary. These pathologies can appear both immediately after birth and after a while. Among these diseases is connective tissue dysplasia, which has many heterogeneous symptoms, which makes it difficult to diagnose.

What is connective tissue dysplasia?

Connective tissue dysplasia or hereditary collagenopathy is a violation of the development of connective tissue that occurs in the embryonic and postnatal periods. Connective tissue dysplasia is characterized by the formation of a defect in fibrous structures, as well as the main substance of tissue connectors. As a result, there is a violation of homeostasis at the tissue, organ and organism levels.

This manifests itself in the form of genetic mutations that can form in almost any organ, since connective tissues are present almost everywhere in the body. Depending on the nature of the observed changes, connective tissue dysplasia can be:

• differentiated;
• undifferentiated.

Differentiated connective tissue dysplasia

The syndrome of connective tissue dysplasia in a differentiated form is caused by a certain type of hereditary factor with characteristic clinical manifestations. Gene defects and biochemical processes of this form of pathology are well studied. Often this species is named because it is accompanied by a violation of the formation of this substance itself. This group of pathologies includes such types of diseases as:

• flaccid skin syndrome;
• Ehlers-Danlos syndrome;

Undifferentiated connective tissue dysplasia

The syndrome of undifferentiated connective tissue dysplasia is diagnosed when doctors fail to attribute the signs of the disorder to a differentiated pathology. Undifferentiated connective tissue dysplasia in children can develop both in infancy and at an older age. Patients with this diagnosis are under constant monitoring, having a high risk of developing various pathologies.

Connective tissue dysplasia - causes

In the course of ongoing research aimed at establishing the factors that cause the disease, specialists have not been able to establish a specific cause of connective tissue dysplasia (dysplasia and connective tissue). However, it is reliably known that a certain kind of gene mutations are the basis of the disease. Some experts call magnesium deficiency in the body as a provoking factor. The disease can be inherited.

Congenital connective tissue dysplasia develops as a result of a violation of the collagen synthesis program. The concentration of the production of connective tissue elements decreases or the stages of interweaving of collagen fibers are confused, there are no cross-links in neighboring molecules. The fabric becomes fragile and poorly structured.

Connective tissue dysplasia - symptoms

Signs of connective tissue dysplasia are so numerous that doctors who observe symptoms often combine them into syndromes. Among the symptoms that often accompany the syndrome of undifferentiated connective tissue dysplasia are:

1. neurological disorders. They occur in 80% of patients. Manifested in the form of the following pathologies:

• autonomic dysfunction;
• panic attack;
• tachycardia;
• fainting state;
• increased sweating.

2. Increased joint mobility- patients with dysplasia are able to bend the little finger 90 degrees to the other side.

3. Deformity of the lower extremities- the legs take the shape of the letter "X".

4. Violation of the digestive tract-, abdominal pain, loss of appetite, bloating.

5. Pathologies of the respiratory system- bronchitis, pneumonia becomes permanent.

6. Changes in the skin- the skin becomes transparent, dry and sluggish, it is pulled back painlessly, but it can form an unnatural fold in the area of ​​the tip of the nose, on the ears.

Syndromes in connective tissue dysplasia

Connective tissue dysplasia syndrome can manifest itself in different ways. The totality of symptoms of damage to a particular organ system is called a syndrome. Among the observed in DST, it is necessary to highlight:

1. Asthenic syndrome: low performance, fatigue, psycho-emotional disorders.
2. Valvular Syndrome: myxomatous degeneration of the heart valves.
3. Thoracodiaphragmatic syndrome: funnel-shaped or keeled deformity of the chest, scoliosis, hyperkyphosis.
4. Vascular Syndrome: damage to the blood arteries with the formation of saccular aneurysm and idiopathic expansion of the walls.
5. Bronchopulmonary Syndrome: tracheobronchomegaly, tracheobronchial dyskinesia, spontaneous pneumothorax.

Connective tissue dysplasia in children

Connective tissue dysplasia in children, the symptoms of which are varied, often has a congenital character. Among the main manifestations of this pathology in children:

1. Support system disorders: chest deformity, scoliosis, kyphosis, hip dysplasia, bone fragility, excessive joint mobility, dislocations and subluxations, disproportionate body segments, X- and O-shaped curvature of the legs.
2. Pathologies from the muscular system: hypotonicity of the muscles of the extremities, a tendency to sprains, tear and rupture of ligaments, tendons.
3. Disorders in the work of the nervous system: drowsiness, fatigue, dizziness.
4. Maxillofacial anomalies of development: violations of teething and growth of teeth, enamel hypoplasia, short frenulum of the tongue, frequent gingivitis.
5. Pathologies of the cardiovascular system: mitral valve prolapse, expansion of the ascending aorta.

Connective tissue dysplasia in adults

Connective tissue dysplasia in adults manifests itself in the form of damage to the following organs and systems:

1. Pathologies of the organ of vision:, astigmatism, anomalies in the development of the fundus, cornea and sclera.
2. Immune system disorders: immunological reactions, allergies.
3. Dislocations and subluxations of joints.
4. Neurotic disorders, expressed in depression, phobias, anorexia nervosa.

Connective tissue dysplasia - diagnosis

Systemic connective tissue dysplasia requires a comprehensive assessment of the state of the body. Diagnosis of the disease is based on:

1. Analysis of patient complaints: problems with the cardiovascular system, abdominal pain, bloating, dysbacteriosis, deviations in the respiratory system.
2. Measurement of the length of all segments of the body.
3. Assessment of joint mobility (Beighton criteria), hypermobility.
4. Taking a daily urine sample to determine hydroxyproline and glycosaminoglycans - glycogen breakdown products.

Connective tissue dysplasia - treatment

Connective tissue insufficiency requires an integrated approach to treatment. The disease cannot be completely cured due to gene mutations, so the efforts of doctors are aimed at alleviating the patient's well-being, slowing down the development of the disease.

Therapeutic measures are as follows:

• selection of specialized complexes of physical culture;
• drawing up the right diet;
• taking medications to improve metabolism, simulate collagen production;
• surgical intervention to correct the shape of the sternum and exclude disorders of the musculoskeletal system.

Medical treatment includes taking the following drugs:

1. Vitamins: group B, ascorbic acid.
2. Chondroxide, Rumalon- for the catabolism of glycosaminoglycans.
3. Osteogenon, Alfacalcidol- to stabilize mineral metabolism.
4. Glycine, glutamic acid, potassium orotate- normalize the level of amino acids in the body.
5. Mildronate, Riboxin, Limontar- to normalize the bioenergetic state.