以难治性腹水为主要症状的戈谢病1例

A case of Gaucher disease with refractory ascites

戈谢病是一种罕见的溶酶体贮积病,出现顽固性腹水者则更为罕见。该文报道了1例因肝脾大、腹水被误诊为自身免疫性肝硬化20余年自幼行脾切除的戈谢病。

Gaucher disease is an uncommon lysosomal storage disease that rarely presents as refractory ascites. We report a case of Gaucher disease with hepatosplenomegaly and ascites who has been misdiagnosed as autoimmune cirrhosis for more than 20 years and underwent splenectomy in infancy.