[Severe congenital liver disease caused by FOCAD gene compound heterozygous variation in a child]

Zhonghua Er Ke Za Zhi. 2025 Jan 2;63(1):90-91. doi: 10.3760/cma.j.cn112140-20240807-00563.
[Article in Chinese]

Abstract

患儿，女，2月6日龄，以“皮肤黄染10 d”入院。家系全外显组测序结果提示FOCAD基因存在NM_001375567.1：c.4203C>G（p.Tyr1401*）和c.2303dupC（p.Leu769Phefs*54）复合杂合变异。诊断为FOCAD基因变异致儿童重型先天性肝病。以保肝降酶对症支持治疗为主，经治疗16 d，好转出院，出院后继续口服药物治疗。19 d后因凝血功能异常再次入院，治疗4 d，基因结果回报异常，家属放弃治疗，2个月后死亡。.

Publication types

  • Case Reports

MeSH terms

  • Exome Sequencing*
  • Fatal Outcome
  • Female
  • Heterozygote*
  • Humans
  • Infant
  • Liver Diseases / congenital
  • Liver Diseases / diagnosis
  • Liver Diseases / genetics
  • Male
  • Mutation*