Chia-Chi Hsu1, Yin-Hsiu Chien, Ming-Yang Lai, Wuh-Liang Hwu. 1. Departments of Pediatrics and Medical Genetics, National Taiwan University Hospital, National Taiwan University College of Medicine, Taipei, Taiwan.
Abstract
BACKGROUND AND PURPOSE: The management of Gaucher disease has been dramatically improved by the development of enzyme replacement therapy (ERT), but there have been no reports of imiglucerase treatment of this disorder in Taiwanese patients. The goal of this study was to evaluate the outcome of imiglucerase treatment for type I Gaucher disease in the first Taiwanese patients to receive this treatment. METHODS: Six patients received ERT for type I Gaucher disease at National Taiwan University Hospital. Their mean age was 36.5 years; four had undergone splenectomy before and one after the start of ERT. All received intravenous imiglucerase 60 U/kg every 2 weeks. Patients were regularly evaluated, including physical examination, laboratory tests and bone roentgenography. RESULTS: All six patients responded well to therapy. The mean length of therapy was 30.3 months. Five patients had anemia, and the mean increase in hemoglobin was 4.46 g/dL. Five patients had thrombocytopenia, and the mean increase in platelet count was 259 x 10(3)/microL. Laboratory data showed a slower response in hemoglobin than in platelet count, which may have been related to splenectomy and low initial platelet count. A decrease in serum alkaline phosphatase was the most prominent finding related to liver function. All patients had a prominent decrease in liver size. No patient had painful bony crises, but no significant improvement was observed in skeletal roentgenograms. There were no serious side effects. CONCLUSION: ERT reversed the visceromegaly and hematologic abnormalities of Gaucher disease and improved the patient's quality of life. It was effective in reducing organomegaly, correcting anemia and thrombocytopenia, improving liver function and alleviating bone pain.
BACKGROUND AND PURPOSE: The management of Gaucher disease has been dramatically improved by the development of enzyme replacement therapy (ERT), but there have been no reports of imiglucerase treatment of this disorder in Taiwanese patients. The goal of this study was to evaluate the outcome of imiglucerase treatment for type I Gaucher disease in the first Taiwanese patients to receive this treatment. METHODS: Six patients received ERT for type I Gaucher disease at National Taiwan University Hospital. Their mean age was 36.5 years; four had undergone splenectomy before and one after the start of ERT. All received intravenous imiglucerase 60 U/kg every 2 weeks. Patients were regularly evaluated, including physical examination, laboratory tests and bone roentgenography. RESULTS: All six patients responded well to therapy. The mean length of therapy was 30.3 months. Five patients had anemia, and the mean increase in hemoglobin was 4.46 g/dL. Five patients had thrombocytopenia, and the mean increase in platelet count was 259 x 10(3)/microL. Laboratory data showed a slower response in hemoglobin than in platelet count, which may have been related to splenectomy and low initial platelet count. A decrease in serum alkaline phosphatase was the most prominent finding related to liver function. All patients had a prominent decrease in liver size. No patient had painful bony crises, but no significant improvement was observed in skeletal roentgenograms. There were no serious side effects. CONCLUSION: ERT reversed the visceromegaly and hematologic abnormalities of Gaucher disease and improved the patient's quality of life. It was effective in reducing organomegaly, correcting anemia and thrombocytopenia, improving liver function and alleviating bone pain.
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