1. [Gaucher's disease: pathogenesis, diagnosis and therapy].
- Author
-
Pregun I and Tulassay Z
- Subjects
- Anemia enzymology, Bone Diseases, Metabolic enzymology, Bone Marrow Transplantation, Genetic Therapy, Glucosylceramidase administration & dosage, Glucosylceramidase deficiency, Glucosylceramidase genetics, Glucosylceramidase metabolism, Glucosylceramides metabolism, Hepatomegaly enzymology, History, 19th Century, Humans, Splenectomy, Splenomegaly enzymology, Gaucher Disease diagnosis, Gaucher Disease enzymology, Gaucher Disease epidemiology, Gaucher Disease history, Gaucher Disease physiopathology, Gaucher Disease 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.
- Published
- 2004