Gaucher's disease

Gaucher disease refers to sphingolipidoses - lipid storage diseases; caused by defective genes responsible for the synthesis of the hydrolytic lysosomal enzyme beta-glucocerebrosidase (beta-glucosidase). The defect and deficiency of this enzyme leads to disruption of the lipid utilization - and the accumulation of glucocerebroside in the macrophages of mainly bone marrow, spleen, and liver. There are three types of Gaucher disease. Type 1 (good) to 30 times more common in Jews (Ashkenazi Western European Group); neurological disorders at the same time no, visceral changes are related mainly to the blood-forming organs, enlarged spleen, hypersplenism phenomena, destruction of bone tissue. When the other two types of an ethnic dominance were observed. Type 2 is a malignant form of the process with serious neurological disorders that manifest already in infants and leads to death in the first 2 years of life. Type 3 differs variability in visceral and neurological disorders; the flow is less malignant than type 2. A variety of forms of Gaucher disease is caused by mutations of the gene heterogeneity of beta-glucosidase.

Etiology. Gaucher disease is inherited recessive; Children with a parent, as a rule, do not get sick. However, there are cases of the disease nephews, aunts and uncles. Mutation of the gene, leading to Gaucher disease, apparently contributed to the evolutionary selection of individuals with this defect, which led to the prevalence of this mutation in one of the ethnic groups.

Pathogenesis. The accumulation of lipids - glucocerebroside in macrophages; due to their breeding increases the spleen, liver, broken tubular bone structure.

The clinical picture. Initially asymptomatic splenomegaly, then liver, bone pain. In the blood increases gradually cytopenia. In the bone marrow, liver and spleen abundance of Gaucher cells.

Diagnosis is by detection of specific Gaucher cells (limfotsitopodobnoe nucleus eccentrically located, and a very broad light cytoplasm with little noticeable circular striations) in the spleen punctate (punctures it can only be done in a hospital) or in the bone marrow.

Treatment of symptomatic malignant form; benign form in case of severe thrombocytopenia, bruising, or a significant increase in spleen - spleen resection, splenectomy, bone marrow transplantation.

Prediction of malignant forms of ill - children die within 1-2 years, benign form the majority of patients survive to old age.

Prevention: in a family where one child already ill, possible diagnosis of glucocerebrosidase deficiency in the cells of the amniotic fluid, it is recommended to terminate the pregnancy.