A Case of Type 1 Gaucher Disease Treated with Enzyme Replacement.
- Author:
Jae Bok KIM
1
;
Han Wook YOO
Author Information
1. Department of Pediatrics, Asan Medical Center, College of Medicine, Ulsan University, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Type 1 Gaucher disease;
Enzyme replacement therapy
- MeSH:
Blood Cell Count;
Blood Platelets;
Bone Marrow;
Child;
Cone-Beam Computed Tomography;
Enzyme Replacement Therapy;
Female;
Gaucher Disease*;
Glucosylceramidase;
Humans;
Infant;
Lysosomal Storage Diseases;
Macrophages;
Pancytopenia;
Purpura;
Splenomegaly
- From:Journal of the Korean Pediatric Society
1998;41(11):1590-1595
- CountryRepublic of Korea
- Language:Korean
-
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.
