నైరూప్య
Gaucherâs Disease: A Case Report
Haya H Ezadeen*, Mohammed A Mahnashi, Mohammed N Sharahili, Afrah A Ghawi
Gaucher ’ s disease (GD) is an uncommon genetic disorder with an autosomal recessive inheritance pattern. It is known as the most common lysosomal storage disorders (LSDs) worldwide and occurs due to a deficit of the enzyme glucocerebrosidase owing to a mutation in the acid-β-glucosidase (GBA1) gene. This characterization of this metabolic defect is abnormal accumulation of glucocerebrosides in the lysosomes of cells. It is exhibited with wide range of phenotypic variations; abdominal swelling, hepatosplenomegaly, anemia, thrombocytopenia, and bone diseases. Diagnosis is confirmed on the basis of identification of deficiency of glucocerebrosidase activity. Enzyme replacement is the mainstay of treatment although oral administration of inhibitors of glucosylceramide biosynthesis is also used. In this study, a case of GD in a 5-year-old boy with massive splenomegaly and lymphadenopathy is reported. This case report is an effort to emphasize the significance of early diagnosis of this disorder to ensure its proper prognosis and treatment at an early stage.