Article
[A case of delayed-type cholesteryl ester storage disease derived from LIPA gene mutation].
Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Apr 2022
Xiao Z J, Liu S X, Zou B, Cheng H H, Xu H, Huang Z H, Shu S N
Abstract excerpt
7岁1月龄患儿因“发现肝功能异常4年”就诊。体格检查发现肝脾肿大，组织病理学表现为肝脂肪变性和肝纤维化。基因检测提示LIPA基因存在复合杂合突变：c.860G>A（p.G287E）和c.796G>T（p.G266*），分别来源于父亲和母亲，进一步完善溶酶体酸性脂肪酶活性测定提示明显降低，诊断为LIPA基因突变导致的迟发型胆固醇酯贮积病。患儿以护肝降酶对症支持治疗为主，随访无肝衰竭的表现。.
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.