title: [Gaucher disease--one of the possible causes of splenomegaly--case report].
abstract: The aim of this article is to present a case report of Gaucher disease which was diagnosed in patient with hepatosplenomegaly. A 43 years old man has complained of weakness, stomach pain and yellowish skin color for several years. The severity of symptoms has increased during the last 2 years. Laboratory data revealed thrombocytopenia (platelet count 108 G/l) and slightly elevated bilirubin level (1.68 mg/dl). In ultrasound examination hepatosplenomegaly was observed. Computer tomography evaluated the size of the spleen to 20 x 12 cm. Gaucher cells were found in bone marrow. The some type of cells was recognized in liver biopsy. To confirm diagnosis of Gaucher disease enzyme test was performed. Chitotriosidase level in serum was pronouncedly increased (11,540 nmol/mg protein/hr) while normal level is under 150 nmol/mg protein/hr. Glucocerebrosidase activity in leucocytes was within the limit. Thus the enzyme activity was 21.8 nmol/mg protein/hr and was below the normal range which is between 111-455 nmol/mg protein/hr. The last assay, measuring glucolukocerebrosidase activity in cultured fibroblast confirmed the diagnosis of Gaucher disease.
authors.affiliation: Klinika Hematoonkologii i Transplantacji Szpiku AM w Lublinie.
authors.forename: Bozena
authors.initials: B
authors.lastname: Sokołowska
authors.forename: Danuta
authors.initials: D
authors.lastname: Skomra
authors.forename: Barbara
authors.initials: B
authors.lastname: Czartoryska
authors.forename: Waldemar
authors.initials: W
authors.lastname: Tomczak
authors.forename: Anna
authors.initials: A
authors.lastname: Tylki-Szymańska
authors.forename: Maryla
authors.initials: M
authors.lastname: Repelewska
authors.forename: Andrzej
authors.initials: A
authors.lastname: Drop
authors.forename: Tomasz
authors.initials: T
authors.lastname: Gromek
mesh_terms: D000328:Adult; D001854:Bone Marrow Cells / Q000473:pathology; D003937:Diagnosis, Differential; D005776:Gaucher Disease / Q000150:complications* / Q000175:diagnosis* / Q000201:enzymology / Q000473:pathology; D005962:Glucosylceramidase / Q000378:metabolism; D006529:Hepatomegaly / Q000209:etiology*; D006596:Hexosaminidases / Q000097:blood; D006801:Humans; D008297:Male; D013163:Splenomegaly / Q000209:etiology*
chemical_list: D006596:Hexosaminidases; C086400:chitotriosidase; D005962:Glucosylceramidase