title: A case of type I Gaucher disease with cardiopulmonary amyloidosis and chitotriosidase deficiency.
abstract: Severe cardiopulmonary amyloidosis developed several months after a total splenectomy in a patient with type 1 Gaucher disease and led within a year to his death at 48 years of age. The autopsy findings were dominated by extensive pulmonary and cardiac amyloid infiltration. No Gaucher cells were found in the lungs. Aside from a glucocerebrosidase deficiency the patient was also deficient in chitotriosidase, an enzyme whose activity is usually greatly increased in the serum of Gaucher patients. Analysis of mutations in the glucocerebrosidase gene revealed heterozygosity for N370S and D409H mutations. The normal amount of glucocerebrosidase was found in the spleen by Western blotting. We suggest that amyloidosis should be considered in the differential diagnosis of severe cardiopulmonary disease in Gaucher patients.
authors.affiliation: Institute of Inherited Metabolic Diseases, First Medical Faculty, Charles University, Praha 2, Czech Republic.
authors.forename: M
authors.initials: M
authors.lastname: Hrebícek
authors.forename: J
authors.initials: J
authors.lastname: Zeman
authors.forename: J
authors.initials: J
authors.lastname: Musilová
authors.forename: K
authors.initials: K
authors.lastname: Hodanová
authors.forename: G H
authors.initials: GH
authors.lastname: Renkema
authors.forename: L
authors.initials: L
authors.lastname: Vepreková
authors.forename: J
authors.initials: J
authors.lastname: Ledvinová
authors.forename: D
authors.initials: D
authors.lastname: Hrebícek
authors.forename: J
authors.initials: J
authors.lastname: Sokolová
authors.forename: J M
authors.initials: JM
authors.lastname: Aerts
authors.forename: M
authors.initials: M
authors.lastname: Elleder
mesh_terms: D000682:Amyloid / Q000032:analysis; D000686:Amyloidosis / Q000150:complications* / Q000473:pathology; D005776:Gaucher Disease / Q000150:complications* / Q000473:pathology; D006596:Hexosaminidases / Q000032:analysis / Q000097:blood / Q000172:deficiency*; D006801:Humans; D007150:Immunohistochemistry / Q000379:methods; D008168:Lung / Q000737:chemistry / Q000473:pathology* / Q000648:ultrastructure; D008297:Male; D008875:Middle Aged; D009206:Myocardium / Q000737:chemistry / Q000473:pathology* / Q000648:ultrastructure; D013154:Spleen / Q000737:chemistry / Q000201:enzymology; D001617:beta-Glucosidase / Q000032:analysis
chemical_list: D000682:Amyloid; D006596:Hexosaminidases; C086400:chitotriosidase; D001617:beta-Glucosidase