title: [Gaucher's disease: pathogenesis, diagnosis and therapy].
abstract: Gaucher's disease is the most common lysosomal storage disorder. Gene defect leads to deficiency or decreased activity of glucocerebrosidase followed by the accumulation of glucosylceramide. Most frequently hepatosplenomegaly, anemia, skeletal and hematological abnormalities are present. Different types are known based on the clinical findings. Recently used enzyme replacement therapy seems to eliminate bone marrow transplantation and has favourable effects on symptoms and outcome. Development of gene therapy (reintroduction of missing DNA sequence) hints the possibility of real causal therapy of the disease.
authors.affiliation: Semmelweis Egyetem, Altalános Orvostudományi Kar, II. Belgyógyászati Klinika, Budapest.
authors.forename: István
authors.initials: I
authors.lastname: Pregun
authors.forename: Zsolt
authors.initials: Z
authors.lastname: Tulassay
mesh_terms: D000740:Anemia / Q000201:enzymology; D001851:Bone Diseases, Metabolic / Q000201:enzymology; D016026:Bone Marrow Transplantation; D005776:Gaucher Disease / Q000175:diagnosis / Q000201:enzymology / Q000453:epidemiology / Q000266:history / Q000503:physiopathology / Q000628:therapy; D015316:Genetic Therapy; D005962:Glucosylceramidase / Q000008:administration & dosage / Q000172:deficiency / Q000235:genetics / Q000378:metabolism; D005963:Glucosylceramides / Q000378:metabolism; D006529:Hepatomegaly / Q000201:enzymology; D049672:History, 19th Century; D006801:Humans; D013156:Splenectomy; D013163:Splenomegaly / Q000201:enzymology
chemical_list: D005963:Glucosylceramides; D005962:Glucosylceramidase