title: [Presenting signs and symptoms in Gaucher disease].
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.
authors.affiliation: Debreceni Egyetem Orvos- és Egészségtudományi Centrum, Infektológiai és Gyermekimmunológiai Tanszék.
authors.forename: Melinda
authors.initials: M
authors.lastname: Erdös
authors.forename: Judit
authors.initials: J
authors.lastname: Tóth
authors.forename: László
authors.initials: L
authors.lastname: Maródi
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D005776:Gaucher Disease / Q000145:classification / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics / Q000378:metabolism / Q000628:therapy; D006801:Humans; D006814:Hungary / Q000453:epidemiology; D008297:Male; D008875:Middle Aged