Mucopolysaccharidosis are a group of diseases, the cause of which is the presence of anomalies in the exchange of mucopolysaccharides.Manifestations of the syndrome Mucopolysaccharidosis are a variety of defects in bone, connective, cartilage tissue.MPS are lysosomal storage diseases.The emergence of this disease is possible in the event of failure of lysosomal enzymes of metabolism of glycosaminoglycans.Mucopolysaccharidosis type 1 is a more complex disease compared with mucopolysaccharidosis type 2.
symptoms of mucopolysaccharidosis type 1 and 2
for mucopolysaccharidosis syndrome is characterized by the possession of a number of clinical manifestations.Most of the symptoms manifested in the form of systemic skeletal disease, delayed physical development, gross functional disorders related to the nervous system and lead to severe dementia.Also symptoms of mucopolysaccharidosis type 1 and 2 is the presence of the changes occurring in the internal organs, expressed to varying degrees in different form
The generalized phenotype ICS included the appearance of coarse facial features, hepatosplenomegaly, joint stiffness, corneal clouding, hernia, multiple dysostosis, excretion of mucopolysaccharides in the urine and metahromnogo staining of peripheral white blood cells and bone marrow.
to classical manifestation is the emergence Mucopolysaccharidosis Hurler syndrome.As the early symptoms of overcrowding blood vessels of the nose and the emergence of a macroscopically visible corneal opacity.In the first years of life as the disease progresses, there is a slowdown of rapid growth.Radiological findings revealed an increase in Turkish saddle-fired down, shortening and extension of the long bones and hypoplasia and sharpness of the vertebrae in the lumbar region than is caused by a pronounced kyphosis.When the autopsy revealed the defeat of the cardiovascular system, in which the notes blockage of the coronary arteries, and revealed hydrocephalus.Biochemical defect is the accumulation geparindermatansulfata.Diagnosis of the disease
definitive diagnosis is possible after investigation of certain enzymes in leukocytes and / or cultured skin fibroblasts.
The basis of diagnosis of the disease are the clinical signs, X-ray data studies, the definition of urinary excretion of glycosaminoglycans, the research activity of specific enzymes in the cell culture, the amniotic fluid.The study included conducting genealogical, clinical, biochemical, and functional X-ray, molecular genetic techniques.
Treatment syndrome Mucopolysaccharidosis type 1 and 2
to treat mucopolysaccharidosis syndrome type 1 and 2 may:
- holding a corneal transplant;
- perform surgical correction of valvular heart disease, pinched nerves.
enzyme replacement therapy is not effective.Bone marrow transplantation is achieved varying results.
international experience, the following treatments for patients with a diagnosis of MPS:
- symptomatic, which includes treatment with medicines, physical therapy or surgery;
- substitution treatment;
- perform a stem cell transplant.
as physical therapy techniques can be used electrophoresis lidazy applied on the area affected joints, laser puncture, magnetic therapy, paraffin baths, exercise therapy, in which mainly the impact is on the joints and the spine, holding general massage, perform rehabilitation of chronic foci of infection of the mouth andnasopharynx.
as other treatments can act antiglaucomatous operations adenotonzillektomiya, hernia repair, tracheostomy, with respect to the operation of carpal tunnel syndrome, hydrocephalus shunt, hip replacement, heart valve.
Prevention syndrome Mucopolysaccharidosis type 1 and 2
To prevent syndrome Mucopolysaccharidosis type 1 and 2 is necessary to conduct genetic counseling and the implementation of antenatal diagnosis.In addition, it is desirable to determine the activity of the enzymes and the maintenance of cells in culture amniotic fluid glycosaminoglycans.