[Clinical characteristics analysis of a case of sitosterolemia due to mutation of ABCG5 gene in a child with thrombocytopenia and abnormal liver function]

Zhonghua Gan Zang Bing Za Zhi. 2021 Nov 20;29(11):1111-1114. doi: 10.3760/cma.j.cn501113-20200108-00009.
[Article in Chinese]

Abstract

谷固醇血症是一种罕见的常染色体隐性遗传脂质代谢异常疾病，其特征为血浆和组织中谷固醇的含量增高、蓄积。现报道1例以血小板减少和肝功能异常就诊，通过相关检查发现ABCG5基因突变确诊为谷固醇血症患儿，同时分析患儿的临床特征。.

Keywords: Gene mutation; Liver function; Sitosterolemia; Thrombocytopenia.

Publication types

  • Case Reports

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily G, Member 5 / genetics
  • Child
  • Humans
  • Hypercholesterolemia
  • Intestinal Diseases
  • Lipid Metabolism, Inborn Errors* / genetics
  • Lipoproteins / genetics
  • Liver
  • Mutation
  • Phytosterols / adverse effects
  • Thrombocytopenia* / genetics

Substances

  • ABCG5 protein, human
  • ATP Binding Cassette Transporter, Subfamily G, Member 5
  • Lipoproteins
  • Phytosterols

Supplementary concepts

  • Sitosterolemia