Prezentációs jelek és tünetek Gaucher-kórban.

Translated title of the contribution: Presenting signs and symptoms in Gaucher disease

Research output: Contribution to journalReview article

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Abstract

History and presenting signs and symptoms in 26 Hungarian Gaucher patients are described in order to promote recognition of non-diagnosed patients. Macrophages accumulating glucocerebrosidase due to deficient glucocerebrosidase activity may be present in many organs leading to a wide variety of clinical manifestations. The most common presenting signs and symptoms are splenomegaly, hepatomegaly, hypersplenism with anemia and thrombocytopenia, and bone deterioration. Rare manifestations of Gaucher disease including glomerulonephritis, pericarditis, pericardial calcification, haemorrhagic colitis and amyloidosis are also discussed.

Original languageHungarian
Pages (from-to)2327-2335
Number of pages9
JournalOrvosi hetilap
Volume143
Issue number41
Publication statusPublished - Oct 13 2002

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ASJC Scopus subject areas

  • Medicine(all)

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