Two Sisters with Gaucher Disease: Focus on the Effectiveness of Imiglucerase Treatment: Case Reports
Journal Title: Journal of Advances in Medicine and Medical Research - Year 2016, Vol 17, Issue 3
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.
Authors and Affiliations
Mehmet Celik, Semra Ayturk, Mustafa Yilmaztepe, Ahmet Kucukarda, Onur Mert, Sibel Guldiken, Ahmet Muzaffer Demir, Armagan Tugrul
Keywords
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- EP ID EP341868
- DOI 10.9734/BJMMR/2016/26343
- Views 83
- Downloads 0
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