Soyedinitelnotkanny dysplasia – group of the polymorphic pathological states in the clinical relation caused by hereditary or congenital defects of synthesis of collagen and which are followed by violation of functioning of internals and the musculoskeletal device. The most often soyedinitelnotkanny dysplasia is shown by change of proportions of a body, bone deformations, hyper mobility of joints, habitual dislocations, hyper elastic skin, valvate heart diseases, fragility of vessels, muscular weakness. Diagnostics is based on the phenotypical signs, biochemical indicators given to a biopsy. Treatment of a soyedinitelnotkanny dysplasia includes LFK, massage, a diet, medicamentous therapy.
Soyedinitelnotkanny dysplasia – the concept uniting various diseases caused by a hereditary generalized kollagenopatiya and which are shown decrease in durability of connecting fabric of all systems of an organism. Population frequency of a soyedinitelnotkanny dysplasia makes 7-8%, however it is supposed that its separate signs and small undifferentiated forms can occur at 60-70% of the population. The Soyedinitelnotkanny dysplasia comes into the view of the clinical physicians working in different medical areas – pediatrics, traumatology and orthopedics, rheumatology, cardiology, ophthalmology, gastroenterology, immunology, pulmonology, urology, etc.
Reasons of a soyedinitelnotkanny dysplasia
Defect of synthesis or structure of collagen, proteinaceous and carbohydrate complexes, structural proteins, and also necessary enzymes and cofactors is the cornerstone of development of a soyedinitelnotkanny dysplasia. Different impacts on a fruit leading to genetically determined change of a fibrillogenez of an extracellular matriks act as an immediate cause of the considered pathology of connecting fabric. The adverse ecological situation, defective food and addictions of mother, stresses, the burdened course of pregnancy and so forth belong to such mutagen factors. Some researchers point to a pathogenetic role of a gipomagniyemiya in development of a soyedinitelnotkanny dysplasia, based on detection of deficiency of magnesium at a spectral research of hair, blood, oral liquid.
Synthesis of collagen in an organism is coded by more than 40 genes concerning which over 1300 types of mutations are described. It causes a variety of clinical manifestations of soyedinitelnotkanny displaziya and complicates their diagnostics.
Classification of a soyedinitelnotkanny dysplasia
Soyedinitelnotkanny dysplasia are subdivided on differentiated and undifferentiated. Diseases with the defined, established inheritance type, a clear clinical picture, the known gene defects and biochemical violations are among the differentiated displaziya. As the most typical representatives of this group of hereditary diseases of connecting fabric serve Elersa-Danlos's syndrome, Marfan's syndrome, imperfect osteogenesis, mukopolisakharidoza, system , displastichesky scoliosis, Bils's syndrome (a congenital kontrakturny arakhnodaktiliya), etc. The group of undifferentiated soyedinitelnotkanny displaziya is made by various pathologies whose phenotypical signs do not correspond to any of the differentiated diseases.
On degree of expressiveness allocate the following types of soyedinitelnotkanny displaziya: small (in the presence of the 3rd and more phenotypical signs), isolated (with localization in one body) and actually hereditary diseases of connecting fabric. Depending on the prevailing displastichesky stigmata distinguish 10 phenotypical options of a soyedinitelnotkanny dysplasia:
- Marfanopodo6naya appearance (includes 4 and more phenotypical a symptom of a skeletal dysplasia).
- Marfanopodo6ny phenotype (incomplete feature set of a syndrome of Marfan).
- MASS-phenotype (includes damage of an aorta, the mitralny valve, a skeleton and skin).
- Primary prolapse of the mitralny valve (EhoKG-priznakami of a mitralny prolapse, is characterized by changes from skin, a skeleton, joints).
- Classical elersopodobny phenotype (incomplete feature set of a syndrome of Elersa-Danlos).
- Hyper mobile elersopodobny phenotype (it is characterized by hyper mobility of joints and the accompanying complications – incomplete dislocations, dislocations, stretchings, flat-footedness; artralgiya, involvement of bones and skeleton).
- Hyper mobility of joints good-quality (includes the increased volume of movements in joints without interest of bone and skeletal system and artralgiya).
- Undifferentiated soyedinitelnotkanny dysplasia (includes 6 and more displastichesky stigmata which, however, are not enough for diagnostics of the differentiated syndromes).
- The increased displastichesky stigmatization with primary bone and articulate and skeletal signs.
- The increased displastichesky stigmatization with primary visceral signs (small anomalies of heart or other internals).
As the description of the differentiated forms of a soyedinitelnotkanny dysplasia is in detail given in the corresponding independent reviews, further it will be a question of its undifferentiated options. In that case when localization of a soyedinitelnotkanny dysplasia is limited to one body or system, it is isolated. If the dysplasia of connecting fabric is shown fenotipichesk and takes, at least, one of internals, this state is considered as a syndrome of a soyedinitelnotkanny dysplasia.
Symptoms of a soyedinitelnotkanny dysplasia
External (phenotypical) symptoms of a soyedinitelnotkanny dysplasia are presented by constitutional features, anomalies of development of bones of a skeleton, skin, etc. Patients with a dysplasia of connecting fabric have the asthenic constitution: high growth, narrow shoulders, deficiency of body weight. Violations of development of an axial skeleton can be presented by scoliosis, kifozy, funneled or keeled deformations of a thorax, juvenile osteochondrosis. Kraniotsefalny stigmata of a soyedinitelnotkanny dysplasia quite often include a dolikhotsefaliya, violations of a bite, anomaly of teeth, the Gothic sky, not union of an upper lip and the sky. Pathology of bone and articulate system is characterized by Au-shaped or H-shaped deformation of extremities, a sindaktiliya, an arakhnodaktiliya, hyper mobility of joints, flat-footedness, tendency to habitual dislocations and incomplete dislocations, fractures of bones.
From integuments the raised tensile properties (hyper elasticity) or, on the contrary, fragility and dryness of skin are noted. Quite often on it without the visible reasons there are striya, pigmentary spots or the centers of a depigmentation, vascular defects (teleangiektaziya, gemangioma). Weakness of muscular system at a soyedinitelnotkanny dysplasia causes tendency to omission and loss of internals, hernias, a muscular wryneck. From other external symptoms of a soyedinitelnotkanny dysplasia such microanomalies as hypo - or a gipertelorizm, a lopoukhost, asymmetry of ears, the low line of growth of hair on a forehead and a neck, etc. can meet.
Visceral defeats proceed with interest of TsNS and the autonomic nervous system, various internals. The neurologic violations accompanying a soyedinitelnotkanny dysplasia are characterized by vegeto-vascular dystonia, an adynamy, enuresis, chronic migraine, violation of the speech, high uneasiness and emotional instability. The syndrome of a soyedinitelnotkanny dysplasia of heart can include a prolapse of the mitralny valve, an open oval window, a hypoplasia of an aorta and a pulmonary trunk, lengthening and excess mobility of chords, aneurisms of coronary arteries or a mezhpredserdny partition. As a consequence of weakness of walls of venous vessels serves development of a varicosity of the lower extremities and a small pelvis, hemorrhoids, to the varikotsela. Patients with a soyedinitelnotkanny dysplasia have tendency to developing of arterial hypotension, arrhythmias, atrioventricular and intra ventricular blockade, kardialgiya, sudden death.
Kardialny manifestations are quite often accompanied by the bronchopulmonary syndrome which is characterized by existence of a cystous hypoplasia of lungs, bronkhoektaz, bullous emphysema, repeated spontaneous pheumothoraxes. Damage of a GIT in the form of omission of internals, diverticulums of a gullet, a gastroezofagealny reflux, hernia of an esophageal opening of a diaphragm is characteristic. As typical displays of pathology of an organ of vision at a soyedinitelnotkanny dysplasia serve short-sightedness, an astigmatism, far-sightedness, , squint, an incomplete dislocation and dislocation of a crystalline lens.
From an urinary system the urine incontience, kidney anomalies (a hypoplasia, doubling, a horseshoe kidney) and so forth can be noted . The reproductive violations associated with a soyedinitelnotkanny dysplasia at women can be presented by omission of a uterus and vagina, the subway - and a menorragiya, spontaneous abortions, postnatal bleedings; at men the kriptorkhizm is possible. The persons having symptoms of a soyedinitelnotkanny dysplasia are inclined to frequent SARS, allergic reactions, a hemorrhagic syndrome.
Diagnosis of a soyedinitelnotkanny dysplasia
Diseases from group of soyedinitelnotkanny displaziya are not always diagnosed correctly and in due time. Often patients with these or those symptoms of a dysplasia are observed at doctors of different specialties: traumatologists, neurologists, cardiologists, pulmonologists, nephrologists, gastroenterologists, ophthalmologists, etc. Recognition of undifferentiated forms of a soyedinitelnotkanny dysplasia becomes complicated lack of uniform algorithms of diagnostics. Detection of set of phenotypical and visceral signs has the greatest diagnostic importance. For the purpose of detection of the last are widely applied ultrasonic (EhoKG, ultrasonography of kidneys, ultrasonography of abdominal organs), endoscopic (FGDS), electrophysiological (the ECG, EEG), radiological (a X-ray analysis of lungs, joints, a backbone, etc.) methods. Identification of characteristic polyorgan violations, mainly, from musculoskeletal, nervous and cardiovascular systems with high degree of probability demonstrates existence of a soyedinitelnotkanny dysplasia.
Biochemical indicators of blood, system of a hemostasis, the immune status are in addition investigated, the skin biopsy is carried out. As a method screening diagnostics of a soyedinitelnotkanny dysplasia it is offered to conduct a research of the papillary drawing of skin of a forward belly wall: identification of not properly executed type of the papillary drawing serves as a marker of displastichesky violations. Families where there are cases of a soyedinitelnotkanny dysplasia, are recommended to undergo medico-genetic consultation.
Treatment and forecast of a soyedinitelnotkanny dysplasia
Specific treatment of a soyedinitelnotkanny dysplasia does not exist. Patients are recommended to adhere to a rational day regimen and food, improving physical activities. For the purpose of activization of compensatory and adaptive opportunities courses LFK, massage, a balneoterapiya, physical therapy, acupuncture, an osteopathy are appointed.
In a complex of medical actions, along with sindromalny medicamentous therapy, metabolic medicines (a L-carnitine, coenzyme Q10), medicines of calcium and magnesium, hondroprotektor, vitamin and mineral complexes, antioxidant and immunomodulators, phytotherapy, psychotherapy are used.
The forecast of a soyedinitelnotkanny dysplasia in many respects depends on degree of expressiveness of displastichesky violations. At patients with the isolated forms quality of life can not be broken. At patients with polysystem defeat the risk of an early and heavy invalidization, premature death as which reasons can act fibrillation of ventricles, TELA, a rupture of aneurism of an aorta, a hemorrhagic stroke, heavy internal bleedings, etc. is increased.