16 May

Mucopolysaccharidosis - causes , types , symptoms, treatment

Contents:

1. reasons

2. Pathogenesis

3. Symptoms mucopolysaccharidosis

4. Diagnostics

5. Treatment of mucopolysaccharidosis

6. forecast

7. Prevention mucopolysaccharidosis

Mucopolysaccharidosis - a set of relatively rare diseases of genetic nature, resulting from deficiency of certain enzymes that contribute to the splitting of certain types of fats and carbohydrates into simple molecules.Various types of pathology and symptoms develop in humans is due to the accumulation of these particles in the body.

reasons

primary cause of mucopolysaccharidosis is his inheritance in an autosomal recessive manner.

Pathogenesis

Mucopolysaccharidosis characterized by lesions of the lysosomal enzyme systems, which are directly involved in the catabolism of glycosaminoglycans.These substances accumulate in organs and tissues in sufficiently large quantities as a result of enzymatic deficiency.For this reason mucopolysaccharidoses usually attributed to the accumulation of di

sease.Thus, there is an infringement of the various organs and systems.One of the main manifestations of mucopolysaccharidosis is a systemic failure of the skeleton, as well as the delay in physical development (especially when I-S, IV and VI types of mucopolysaccharidosis).This fact is primarily due to the fact that the glycosaminoglycans are part of the connective tissue

Symptoms mucopolysaccharidosis

mucopolysaccharidosis Among the main symptoms can be identified growth retardation, which is beginning to manifest itself, as a rule, by the end of the first year of a child's life.Also among the most pronounced symptoms may be noted mucopolysaccharidosis coarse facial features, large tongue, overhanging forehead, deformation ears, hypertelorism, tooth bending.Deformed chest and pronounced kyphosis of the lumbar and thoracic spine are also common symptoms of mucopolysaccharidosis.In most cases, marked hepatosplenomegaly, appropriate limits joint mobility, inguinal and umbilical hernia.With the help of X-ray examination revealed a sign of mucopolysaccharidosis as early ossification of occipital-parietal suture.At the same violation of the nuclei of ossification was observed.The neurological symptoms observed mucopolysaccharidosis such as general motor retardation and diffuse muscular hypotonia.All types of mucopolysaccharidosis accompanied by the hearing impaired to varying degrees, and a decrease of intelligence.

Depending on the severity of the bone changes and disorders of the psyche, to distinguish between the seven main types of mucopolysaccharidosis.

Hurler Syndrome - the first type of mucopolysaccharidosis, arising as a result of autosomal recessive inheritance.This form of the disease progresses rapidly, and in the urine of patients have elevated levels of heparin sulfate (heparan sulfate) and chondroitin sulfate B (dermatan sulfate).

Syndrome Gunther - a second type of mucopolysaccharidosis, characterized by the development of retinitis pigmentosa and hearing loss.This form of the disease is slow, while in the urine of patients noted heparin sulfate and chondroitin sulfate content in, but to a lesser extent.The disease is caused by a recessive sex linkage.

Sanfilippo syndrome - a third type of mucopolysaccharidosis, characterized by the development of severe dementia and the large amount of heparin sulfate in the urine.The disease develops as a result of autosomal recessive inheritance.

Morquio Syndrome - a fourth type of mucopolysaccharidosis.

Sheye Syndrome - fifth type.

-Lamy Syndrome Maroto - sixth type.

Seventh mucopolysaccharidosis type is caused by a lack of beta-glucuronidase.

Diagnostics

basis for making the diagnosis are clinical manifestations of the disease, the results of X-ray studies, excretion of glycosaminoglycans in the urine, study the activity of specific enzymes, as well as amniotic fluid (antenatal diagnosis).

Treatment of mucopolysaccharidosis

mucopolysaccharidosis Treatment is symptomatic.Usually, the patient is monitored by different physicians, including orthopedic (conducted orthopedic correction of disorders of the musculoskeletal system), surgeons (remove hernia), pediatricians (engaged in treatment of commonly occurring respiratory virus diseases observed cardiovascular insufficiency), otolaryngology (involved in hearing impairment, sinusitis and chronic otitis), neurosurgeons, ophthalmologists and neurologists.hormones, such as glucocorticoids and corticotropin tireoidin used for the treatment of mucopolysaccharidosis.These funds contribute only a temporary improvement in the patient's condition.Vitamin A, the introduction of dextran-70, as well as transfusion of blood plasma products are also used for the treatment of mucopolysaccharidosis, but as hormones contributes only a temporary improvement.

forecast

All forms of the disease are characterized by a poor prognosis.The fact is that with age, the patient increased skeletal changes, as well as violations of various systems and organs.

Prevention mucopolysaccharidosis

Prevention of disease is the prenatal diagnosis based on the direct detection of the lack of the enzyme in the amniotic cells.

Attention!

This article is available exclusively in the educational purposes and is not research material or professional medical advice.

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