Two Sisters with Gaucher Disease: Focus on the Effectiveness of Imiglucerase Treatment: Case Reports
Mehmet Celik *
Department of Internal Medicine, Division of Endocrinology and Metabolism, Trakya Medical School, University of Trakya, Edirne,Turkey
Semra Ayturk
Department of Internal Medicine, Division of Endocrinology and Metabolism, Trakya Medical School, University of Trakya, Edirne,Turkey
Mustafa Yilmaztepe
Department of Cardiology, Trakya Medical School, University of Trakya, Edirne, Turkey
Ahmet Kucukarda
Department of Internal Medicine, Trakya Medical School, University of Trakya, Edirne, Turkey
Onur Mert
Department of Internal Medicine, Trakya Medical School, University of Trakya, Edirne, Turkey
Sibel Guldiken
Department of Internal Medicine, Division of Endocrinology and Metabolism, Trakya Medical School, University of Trakya, Edirne,Turkey
Ahmet Muzaffer Demir
Department of Internal Medicine, Division of Haematology, Trakya Medical School, University of Trakya, Edirne, Turkey
Armagan Tugrul
Department of Internal Medicine, Division of Endocrinology and Metabolism, Trakya Medical School, University of Trakya, Edirne,Turkey
*Author to whom correspondence should be addressed.
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.
Keywords: Gaucher disease, imiglucerase, pulmonary hypertension.