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Three Infants with Pathogenic Variants in the ABCA3 Gene: Presentation, Treatment, and Clinical Course.三名 ABCA3 基因致病性变异的婴儿：临床表现、治疗和临床过程。
J Pediatr. 2021 Apr;231:278-283.e2. doi: 10.1016/j.jpeds.2020.12.055. Epub 2020 Dec 24.
2
Genotype-phenotype correlations for infants and children with ABCA3 deficiency.ABCA3 缺陷婴儿和儿童的基因型-表型相关性。
Am J Respir Crit Care Med. 2014 Jun 15;189(12):1538-43. doi: 10.1164/rccm.201402-0342OC.
3
Novel ABCA3 mutations as a cause of respiratory distress in a term newborn.新型 ABCA3 突变导致足月新生儿呼吸窘迫。
Gene. 2014 Jan 25;534(2):417-20. doi: 10.1016/j.gene.2013.11.015. Epub 2013 Nov 20.
4
A New Gene Mutation c.3445G>A (p.Asp1149Asn) as a Causative Agent of Newborn Lethal Respiratory Distress Syndrome.一个新的基因突变 c.3445G>A（p.Asp1149Asn）是导致新生儿致死性呼吸窘迫综合征的原因。
Medicina (Kaunas). 2019 Jul 19;55(7):389. doi: 10.3390/medicina55070389.
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Null ABCA3 in humans: large homozygous ABCA3 deletion, correlation to clinical-pathological findings.人类ABCA3基因缺失：大型纯合ABCA3基因缺失及其与临床病理结果的相关性
Pediatr Pulmonol. 2014 Mar;49(3):E116-20. doi: 10.1002/ppul.22983. Epub 2014 Jan 14.
6
Synonymous ABCA3 variants do not increase risk for neonatal respiratory distress syndrome.同义 ABCA3 变异与新生儿呼吸窘迫综合征风险增加无关。
J Pediatr. 2014 Jun;164(6):1316-21.e3. doi: 10.1016/j.jpeds.2014.02.021. Epub 2014 Mar 20.
7
[Clinical analysis of heterozygous ABCA3 mutations in children].儿童ABCA3基因杂合突变的临床分析
Zhonghua Er Ke Za Zhi. 2014 Apr;52(4):244-7.
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Ultrastructural and molecular analysis in fatal neonatal interstitial pneumonia caused by a novel ABCA3 mutation.由一种新型ABCA3突变引起的致命性新生儿间质性肺炎的超微结构和分子分析
Mod Pathol. 2007 Oct;20(10):1009-18. doi: 10.1038/modpathol.3800928. Epub 2007 Jul 27.
9
Biologic characterization of ABCA3 variants in lung tissue from infants and children with ABCA3 deficiency.ABCA3 缺陷婴幼儿肺组织中 ABCA3 变异体的生物学特征。
Pediatr Pulmonol. 2022 May;57(5):1325-1330. doi: 10.1002/ppul.25862. Epub 2022 Mar 17.
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Functional Characterization of ATP-Binding Cassette Transporter A3 Mutations from Infants with Respiratory Distress Syndrome.患有呼吸窘迫综合征婴儿的ATP结合盒转运蛋白A3突变的功能特性
Am J Respir Cell Mol Biol. 2016 Nov;55(5):716-721. doi: 10.1165/rcmb.2016-0008OC.

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Novel Compound Heterozygous Mutation of the Gene in a Patient with Neonatal-Onset Interstitial Lung Disease.一名新生儿期起病的间质性肺疾病患者中该基因的新型复合杂合突变
J Clin Med. 2025 May 25;14(11):3704. doi: 10.3390/jcm14113704.
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Why some and not others? Understanding vascular phenotypes in genetic developmental lung diseases.为什么是某些而不是其他的？了解遗传性发育性肺部疾病中的血管表型。
Curr Opin Pediatr. 2025 Jun 1;37(3):278-288. doi: 10.1097/MOP.0000000000001459. Epub 2025 Mar 28.
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Interstitial lung disease in the newborn.新生儿间质性肺疾病
J Perinatol. 2025 Jan;45(1):13-23. doi: 10.1038/s41372-024-02036-9. Epub 2024 Jul 2.
4
Diagnostic Challenges in Neonatal Respiratory Distress-Congenital Surfactant Metabolism Dysfunction Caused by Mutation.新生儿呼吸窘迫——由突变引起的先天性表面活性物质代谢功能障碍的诊断挑战
Diagnostics (Basel). 2022 Apr 26;12(5):1084. doi: 10.3390/diagnostics12051084.

本文引用的文献

1
Functional Genomics of Variants.变异的功能基因组学。
Am J Respir Cell Mol Biol. 2020 Oct;63(4):436-443. doi: 10.1165/rcmb.2020-0034MA.
2
ABCA3 mutations in adult pulmonary fibrosis patients: a case series and review of literature.成人肺纤维化患者中 ABCA3 突变：病例系列及文献复习。
Curr Opin Pulm Med. 2020 May;26(3):293-301. doi: 10.1097/MCP.0000000000000680.
3
Potentiation of ABCA3 lipid transport function by ivacaftor and genistein.依伐卡托与金雀异黄素增强 ABCA3 的脂质转运功能。
J Cell Mol Med. 2019 Aug;23(8):5225-5234. doi: 10.1111/jcmm.14397. Epub 2019 Jun 18.
4
Unusual long survival despite severe lung disease of a child with biallelic loss of function mutations in ABCA-3.尽管患有严重肺部疾病，但携带ABCA - 3双等位基因功能丧失突变的儿童仍存活异常长久。
Respir Med Case Rep. 2018 Mar 6;23:173-175. doi: 10.1016/j.rmcr.2018.03.004. eCollection 2018.
5
Surfactant deficiency syndrome in an infant with a C-terminal frame shift in ABCA3: A case report.ABCA3 基因 C 末端移码突变致婴儿表面活性物质缺乏综合征 1 例报告
Pediatr Pulmonol. 2018 May;53(5):E12-E14. doi: 10.1002/ppul.23994. Epub 2018 Mar 22.
6
Functional rescue of misfolding ABCA3 mutations by small molecular correctors.小分子校正剂对 ABCA3 突变错误折叠的功能拯救。
Hum Mol Genet. 2018 Mar 15;27(6):943-953. doi: 10.1093/hmg/ddy011.
7
Long-term macrolides in diffuse interstitial lung diseases.长期大环内酯类药物在弥漫性间质性肺疾病中的应用。
Eur Respir Rev. 2017 Dec 6;26(146). doi: 10.1183/16000617.0082-2017. Print 2017 Dec 31.
8
Lung disease caused by mutations.由 突变引起的肺部疾病。
Thorax. 2017 Mar;72(3):213-220. doi: 10.1136/thoraxjnl-2016-208649. Epub 2016 Aug 11.
9
Functional Characterization of ATP-Binding Cassette Transporter A3 Mutations from Infants with Respiratory Distress Syndrome.患有呼吸窘迫综合征婴儿的ATP结合盒转运蛋白A3突变的功能特性
Am J Respir Cell Mol Biol. 2016 Nov;55(5):716-721. doi: 10.1165/rcmb.2016-0008OC.
10
ABCA3 lung disease in an ex 27 week preterm infant responsive to systemic glucocorticosteroids.一名27周早产的婴儿患ABCA3相关性肺病，对全身糖皮质激素治疗有反应。
Pediatr Pulmonol. 2016 Jan;51(1):E1-3. doi: 10.1002/ppul.23260. Epub 2015 Jul 29.

三名 ABCA3 基因致病性变异的婴儿：临床表现、治疗和临床过程。

Three Infants with Pathogenic Variants in the ABCA3 Gene: Presentation, Treatment, and Clinical Course.

机构信息

Division of Pediatric Pulmonary, Center for Excellence in Pulmonary Biology, Asthma and Sleep Medicine, Department of Pediatrics, Stanford University School of Medicine, Lucile Packard Children's Hospital at Stanford University, Stanford, CA.

Division of Pediatric Pulmonary, Center for Excellence in Pulmonary Biology, Asthma and Sleep Medicine, Department of Pediatrics, Stanford University School of Medicine, Lucile Packard Children's Hospital at Stanford University, Stanford, CA.

出版信息

J Pediatr. 2021 Apr;231:278-283.e2. doi: 10.1016/j.jpeds.2020.12.055. Epub 2020 Dec 24.

DOI:10.1016/j.jpeds.2020.12.055
PMID:33359301
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8031471/
Abstract

ABCA3 deficiency is a rare cause of neonatal respiratory failure. Biallelic complete loss of function variants lead to neonatal demise without lung transplantation, but children with partial function variants have variable outcomes. The favorable clinical course of 3 such infants presenting with respiratory distress at birth is described.

摘要

ABCA3 缺陷是新生儿呼吸衰竭的一个罕见原因。双等位基因完全功能丧失变异导致新生儿在没有肺移植的情况下死亡，但具有部分功能变异的儿童的结局具有变异性。本文描述了 3 例出生时即出现呼吸窘迫的此类婴儿的良好临床病程。