Gaucher disease is the most common disease nasledsvennaya violation of accumulation, in which there is a shortage of the lysosomal enzyme that breaks down tseramidglyukozu, which leads to the formation of the so-called Gaucher cells.
There are three types of Gaucher disease:
The first type is the most common and has a neurological course. The most frequent clinical manifestation of the disease a painless enlargement of the spleen, a slight increase in the liver, the phenomenon of osteopenia.
The second type - acute neurotic or infantile form. Neurological changes in this form is already visible with 6 months of age. This is the most severe form of the disease and at an early age can lead to death.
The third type - subacute juvenile forma. Diagnose in this form is set in the age of 1.5-4 years. There have been changes in the organs of the hematopoietic system, slowly growing neurodegenerative disorders, among the first to appear violation of eye movements.
The clinical picture of Gaucher disease - says the vast increase in parenchymal organs, especially the spleen. At the same time accompanied by splenomegaly giposplenizmom with thrombocytopenia, anemia and leukopenia. The most serious complication in the first and third types - changes in the bones. The most commonly affected bones of the distal 75% of patients have osteoporosis. Bone crises can occur with acute pain.
In the manifest signs of an enlarged spleen recommend its removal. Complete removal is carried out at the very least. In the absence of pronounced enlargement of the spleen and osteopenia can be done coursework therapy gepaktoprotektorami, choleretic therapy, vitamin. D2 and calcium supplementation. In more severe cases, appoint a so-called containment therapy, including the use of low-dose chemotherapy and urbazona.