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ABCA3 蛋白新型纯合错义突变导致足月婴儿严重呼吸窘迫。

Novel homozygous missense mutation in ABCA3 protein leading to severe respiratory distress in term infant.

机构信息

Neonatology, Madhukar Rainbow Children Hospital, Delhi, India

Neonatology, Madhukar Rainbow Children Hospital, Delhi, India.

出版信息

BMJ Case Rep. 2020 Oct 10;13(10):e235520. doi: 10.1136/bcr-2020-235520.

DOI:10.1136/bcr-2020-235520
PMID:33040033
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7552797/
Abstract

The term baby presented with respiratory distress with X-ray pictures consistent as hyaline membrane disease (HMD). Baby was ventilated and treated with surfactant. Because of the persistence of high ventilation needs with X-ray pictures consistent with HMD with a transient response to surfactant every time, the possibility of an inherited disorder of surfactant metabolism was kept. Whole-exome sequencing revealed a novel homozygous missense mutation in the gene for ATP binding cassette transporter protein A3. The baby died after 100 days of ventilation.

摘要

患儿以呼吸窘迫为表现，X 射线照片符合肺透明膜病（HMD）。患儿行呼吸机通气及肺表面活性物质治疗。因呼吸机通气需求持续较高，X 射线照片符合 HMD，且每次肺表面活性物质治疗均有短暂反应，故考虑肺表面活性物质代谢遗传性疾病的可能性。全外显子测序显示 ABCA3 基因存在新型纯合错义突变。患儿经呼吸机通气 100 天后死亡。

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