Two Sisters with Gaucher Disease: Focus on the Effectiveness of Imiglucerase Treatment: Case Reports

Abstract

Gaucher disease is an autosomal recessive lysosomal storage disease caused by beta glucocerebrosidase enzyme deficiency leading glucosylceramide deposition in reticuloendothelial system (RES) cells. Gaucher cell loaded by glucosylceramide usually infiltrates bone marrow, liver, spleen and lymph nodes, causing multisystemic manifestations. Intravenous replacement of enzymes such as velaglucerase alfa, taliglucerase alfa and imiglucerase, which are recombinant DNA-produced analogues of human β-glucocerebrosidase, is the main therapy in Gaucher disease.  In this report, we presented two sisters diagnosed with Gaucher disease in our clinic and the effectiveness of 4-year imiglucerase treatment was evaluated.