Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry
详细信息 查看全文
- 作者：Amal El-Beshlawy
- 关键词：Gaucher disease type 3 ; Enzyme replacement therapy ; Imiglucerase ; Registry ; Anemia ; Thrombocytopenia ; Hepatosplenomegaly ; Growth
- 刊名：Molecular Genetics and Metabolism
- 出版年：2017
- 出版时间：January-February 2017
- 年：2017
- 卷：120
- 期：1-2
- 页码：47-56
- 全文大小：878 K
- 卷排序：120
文摘
GD3 patients exhibited early onset of severe hematologic and visceral disease and growth failure. Most GBA mutations in this global population were L444P (77%) and D409H (7%). One year of imiglucerase greatly improved hemoglobin, platelets, and liver and spleen volumes. Improvements were maintained or grew further through 5 years of treatment. The probability of surviving at least 5 years after starting imiglucerase was 92%. Imiglucerase ERT provided a life-saving and life-prolonging benefit for patients with GD3.