Gaucher disease:New developments in treatment and etiology  

作　　者：Ozgur Harmanci Yusuf Bayraktar 

机构地区：[1]Department of Gastro-enterology, Hacettepe University Faculty of Medicine

出　　处：《World Journal of Gastroenterology》2008年第25期3968-3973,共6页世界胃肠病学杂志（英文版）

基　　金：Hacettepe University Faculty of Medicine

摘　　要：Gaucher disease (GD) is an autosomal recessive disease which if undiagnosed or diagnosed late results in devastating complications. Because of the heterozygous nature of GD, there is a wide spectrum of clinical presentation. Clinicians should be aware of this rare but potentially treatable disease in patients who present with unexplained organomegaly, anemia, massive splenomegaly, ascites and even cirrhosis of unknown origin. The treatment options for adult type GD include enzyme replacement treatment (ERT) and substrate reduction treatment (SRT) depending on the status of the patient. Future treatment options are gene therapy and "smart molecules" which provide specifi c cure and additional treatment options. In this review, we present the key issues about GD and new developments that gastroenterologists should be aware of.Gaucher disease （GD） is an autosomal recessive disease which if undiagnosed or diagnosed late results in devastating complications. Because of the heterozygous nature of GD, there is a wide spectrum of clinical presentation. Clinicians should be aware of this rare but potentially treatable disease in patients who present with unexplained organomegaly, anemia, massive splenomegaly, ascites and even cirrhosis of unknown origin. The treatment options for adult type GD include enzyme replacement treatment （ERT） and substrate reduction treatment （SRT） depending on the status of the patient. Future treatment options are gene therapy and “smart molecules”which provide specific cure and additional treatment options. In this review, we present the key issues about GD and new developments that gastroenterologists should be aware of.

关 键 词：Gaucher disease Enzyme replacementtreatment Substrate reduction treatment GENETHERAPY Liver fibrosis 

分 类 号：R596[医药卫生—内科学]