Mucopolysaccharidosis: Causes, Treatment and Forecast
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Mucopolysaccharidosis called a group of hereditary diseases associated with connective tissue defects and metabolic disorders specific components of connective tissue — glycosaminoglycans.
Defects in the work of enzymes are formed because of genetic damage in the synthesis of enzymes that cleave these substances or convert. Mucopolysaccharidosis belongs to a storage disease, as an enzymatic defect leads to the violation of these substances splitting in tissues or organs. Damaged structure and functional activity of organs affected the skeleton, organs of sight and there are delays of psychomotor and physical development.
The main reasons for the development of MPS — genetic defects in different chromosomal regions, which the vast majority are inherited in an autosomal recessive manner (except the third and seventh), and the second type is inherited sex-linked, on the X chromosome.
As a result of excess accumulation of mucopolysaccharides cell deformation occurs and organs — valvular heart, great vessels, bones and joints, liver and spleen. Lesions also affect the brain tissues and membranes, large joints and bones. Cartilage grow, affected retina with visual impairment.
Clinical manifestations Mucopolysaccharidosis
Almost all Mucopolysaccharidosis give similar symptoms, which appear in various combinations:
- children large features with a large tongue and a short neck, short stature, impaired formation of joints, hernia, heart disease and enlargement of the liver,
- intellectual disability from moderate to severe,
- skeletal damage,
- trophic and vegetative disorders,
- visual disturbances, congestive optic disc or optic atrophy.
The most severe are the neurological manifestations of hypertensive-hydrocephalic syndrome, Turkish saddle deformity, spinal degeneration, spinal cord lesions.
- The first type of mucopolysaccharidosis — Hurler syndrome — runs hard, with intellectual disabilities, lesions of the heart and skeleton.
- The second type — Gunter syndrome — close by the clinic to the first, but only boys get sick.
- The third type — Sanfillippo syndrome — with the defeat of the liver and skeletal, but minor lesions of other organs. Intellect is reduced.
- The fourth type — Morquio Syndrome — with preserved intellect, but strongly expressed skeletal lesions.
- The fifth type — Sheye syndrome — with a short, severe course without remission, with liver disease, and vision.
- The sixth type — syndrome Maroto-Lamy — unchanged from the intellect, but skeletal defects and failure of vision.
Methods of diagnosis Mucopolysaccharidosis
The main diagnosis of mucopolysaccharidosis — laboratory data. First of all, it held chromatographic urine with a certain level of acidic glycans. Further research carried out pofraktsionnoe heparan sulfate and dermatan sulfate.
Complements diagnostic study of lipid metabolism in plasma and red blood cells, cerebrospinal fluid.
Radical method of treatment for today does not exist. We can only facilitate clinical course and metabolism. This is achieved by using glucocorticoids, sometimes in combination with tireoidinom. Perhaps the use of shock treatments doses of vitamin A. Apply amino acids, anabolic steroids and methionine. When certain types of mucopolysaccharides is a diet without vitamin C.
Prognosis for all forms of the disease. As the growing changes in the skeleton and internal organs, the survival rate up to a maximum of 10 years.