Gaucher's disease: A case report.
نویسندگان
چکیده
GD, a lysosomal storage disorder is caused by a defect in the housekeeping gene lysosomal glucocerebrosidase which is present on the first chromosome (1q22)3. It was first described by a French physician, Philippe Charles Ernest Gaucher in a 32-year-old woman whose liver and spleen were enlarged. The incidence of GD worldwide is approximately 1/57,000 to 1/75,000 births. In Ashkenazi Jews, the incidence is 1/800 births. In India, GD is believed to be extremely rare and has been reported only in a few case reports4. Out of the three types of GD, Type 1 is the most common type, which represents 95% of all cases. It is generally characterised by hepatosplenomegaly, bone and lung disease, hematologic abnormalities such as anemia, thrombocytopenia and coagulation abnormalities. Central nervous system is not involved. It occurs most commonly among Ashkenazi Jews. Type 2 has a severe progression with onset prior to 2 years, with neurologic disease, hepatosplenomegaly and lung disease. Death usually occurs between 2 and 4 years of age due to lung failure. Patients with Type 3 may have onset prior to 2 years of age, but the progression is not as severe. These individuals may survive into the third and fourth decade. Apart from this, a perinatal lethal and a cardiovascular form of GD also exist.
منابع مشابه
Gaucher’s Disease, an Unusual Cause of Massive Splenomegaly, a Case Report
BACKGROUND Gaucher's Disease (G.D.) is an autosomal recessive disorder resulting from the accumulation of glucocerebrosidase in the cells of macrophage-monocyte system as a result of a deficiency in lysosomal glucocerebrosidase. This enzyme is encoded by a gene on chromosome-1. Here we report a case of Gaucher's Disease .G.D is rare in Yazd. CASE REPORTS We reported a patient that presented w...
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عنوان ژورنال:
- Journal of the Medical Association of Thailand = Chotmaihet thangphaet
دوره 64 1 شماره
صفحات -
تاریخ انتشار 1971