[A novel compound heterozygous variation in ABCA3 gene in a child with interstitial lung disease]

Zhonghua Er Ke Za Zhi. 2020 May 2;58(5):423-425. doi: 10.3760/cma.j.cn112140-20191209-00790.
[Article in Chinese]

Abstract

报道1例ABCA3基因复合杂合变异致儿童肺间质疾病家系临床特点。患儿因"活动后气促、口周发绀9年余"就诊，经基因检测证实患儿ABCA3基因存在复合杂合变异c.3241C>T (p.R1081W)、c.3129C>A (p.N1043K)。予泼尼松、羟氯喹、阿奇霉素等治疗，患儿症状体征好转，胸部高分辨率CT磨玻璃样影改善。兄长与患儿基因型一致，偶有咳嗽，胸部高分辨CT存在磨玻璃影；患儿父母各有一个杂合变异，无间质性肺疾病类似临床症状，胸部高分辨CT仅存在慢性肺气肿改变，无典型肺间质疾病改变。.

Publication types

  • Case Reports

MeSH terms

  • ATP-Binding Cassette Transporters / genetics*
  • Child
  • Heterozygote
  • Humans
  • Lung Diseases, Interstitial / genetics*
  • Mutation

Substances

  • ABCA3 protein, human
  • ATP-Binding Cassette Transporters