[A case of delayed-type cholesteryl ester storage disease derived from LIPA gene mutation]

Z J Xiao; S X Liu; B Zou; H H Cheng; H Xu; Z H Huang; S N Shu

doi:10.3760/cma.j.cn112140-20210830-00721

[A case of delayed-type cholesteryl ester storage disease derived from LIPA gene mutation]

Zhonghua Er Ke Za Zhi. 2022 Apr 2;60(4):360-362. doi: 10.3760/cma.j.cn112140-20210830-00721.

[Article in Chinese]

Authors

Z J Xiao¹, S X Liu¹, B Zou¹, H H Cheng², H Xu³, Z H Huang¹, S N Shu¹

Affiliations

¹ Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.
² Institute of Pathology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.
³ Ultrastructural Pathology Laboratory, Department of Pathology, School of Basic Medicine, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.

PMID: 35385947
DOI: 10.3760/cma.j.cn112140-20210830-00721

Abstract

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。.

Publication types

Case Reports

MeSH terms

Cholesterol Ester Storage Disease* / genetics
Humans
Mutation
Sterol Esterase / genetics

Substances

LIPA protein, human
Sterol Esterase