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[Gaucher's disease uncovered late].

作者信息

Ben Said Fatma, Mseddi Sondes, Ben Aribia Nada, Elloumi Moez, Ben Jemaa Mounir, Ben Amar Mohamed, Boudawara Tahia, Kallel Choumous, Makni Faiza, Souissi Taoufik

机构信息

Service et Laboratoire d'hématologie, CHU Hédi Chaker SFAX.

出版信息

Tunis Med. 2004 May;82(5):453-6.

PMID:15453048
Abstract

Gaucher's disease is an uncommon inborn recessive autosomal disease, due to a deficient activity of the lysosomal enzyme beta glucocerebrosidase. This disease is usually diagnosed in the first or second decade of life with the arising of bone pains, splenomegaly and hemorragic manifestations due to thrombocytopenia. When the enlarged spleen is not evident, or after splenectomy, patients may be mis-identified as having Gaucher's disease. We present here two cases of elderly patients aged 70 and 46 years respectively, in whom the disease was a surprising finding of bone marrow examination, during check up for pancytopenia.

摘要

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[Gaucher's disease uncovered late].
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