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A Case of Type 1 Gaucher Disease Treated with Enzyme Replacement

Journal of the Korean Pediatric Society 1998;41(11):1590-1595.
Published online November 15, 1998.
A Case of Type 1 Gaucher Disease Treated with Enzyme Replacement
Jae-Bok Kim, Han-Wook Yoo
Department of Pediatrics, Asan Medical Center, College of Medicine, Ulsan University, Seoul, Korea
Aglucerase(ceredaseⓇ)를 이용한 효소 보충요법으로 치료한 제 1형 Gaucher 병 1례
김재복, 유한욱
울산대학교 의과대학 서울중앙병원 소아과
Correspondence: 
Han-Wook Yoo, Email: 1
Abstract
Type 1 Gaucher disease is one of the most common genetic lysosomal storage disease caused by the deficiency of glucocerobrosidase. Deficiency of this enzyme results in accumulation of glucoceramide in the macrophage and leads to hepatosplenomegaly, pancytopenia, bone damage and sometimes can be fatal. Recently, enzyme replacement has been considered as a major therapeutic strategy and about 2,000 patients have been treated successfully by macrophage- targeted human placental glucocerebrosidase worldwide. Our patient was a 16-month-old female child who visited our clinic with complaints of petechiae and splenomegaly. Complete blood count showed pancytopenia. Bone marrow study revealed Gaucher cells. Glucocerebrosidase activity was remarkably reduced. We infused macrophage-targeted(mannose-terminated)glucocerebrosidase into the patient for 18 months(30U/kg every 2 weeks for 2 months, 10U/kg every other day for 6 months, 5U/kg every other day for 6 months, and 20U/kg every 2 weeks for 4 months). After treatment, substantial increase in hemoglobin and thrombocyte counts was observed. In addition, hepatic and splenic volumes were strikingly decreased on volumetric CT scan. She felt better after treatment and catch-up growth has been achieved. In conclusion, enzyme replacement therapy should be considered as a major therapeutic option in type 1 Gaucher disease.
Key Words: Type 1 Gaucher disease, Enzyme replacement therapy


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