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一名41岁女性的持续性咳嗽：一例家族性肺纤维化病例。

A non-resolving cough in a 41-year-old woman: a case of familial pulmonary fibrosis.

作者信息

Carolan Aoife, Ozaki Mari, Ng Wan Lin, Ryan John, O'Reilly Michael W, Dunne Ruth, Fabre Aurelie, Nathan Nadia, Kannengiesser Caroline, Borie Raphael, Hurley Killian

机构信息

Department of Medicine, Royal College of Surgeons in Ireland, Education and Research Centre, Beaumont Hospital, Dublin, Ireland.

Tissue Engineering Research Group, Royal College of Surgeons in Ireland, Dublin, Ireland.

出版信息

Breathe (Sheff). 2025 Apr 17;21(2):240258. doi: 10.1183/20734735.0258-2024. eCollection 2025 Apr.

DOI:10.1183/20734735.0258-2024
PMID:40255289
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12004259/
Abstract

https://bit.ly/42jJ3aO.

摘要

https://bit.ly/42jJ3aO. （此为链接，无法准确完整翻译其内容，保留原文形式是最合适的）

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b181/12004259/1c06fe497841/EDU-0258-2024.06.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b181/12004259/f655550fbf55/EDU-0258-2024.01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b181/12004259/533ed4a32118/EDU-0258-2024.02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b181/12004259/879462c755b3/EDU-0258-2024.03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b181/12004259/27af3c4b9373/EDU-0258-2024.04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b181/12004259/c7940ea06ac5/EDU-0258-2024.05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b181/12004259/1c06fe497841/EDU-0258-2024.06.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b181/12004259/f655550fbf55/EDU-0258-2024.01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b181/12004259/533ed4a32118/EDU-0258-2024.02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b181/12004259/879462c755b3/EDU-0258-2024.03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b181/12004259/27af3c4b9373/EDU-0258-2024.04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b181/12004259/c7940ea06ac5/EDU-0258-2024.05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b181/12004259/1c06fe497841/EDU-0258-2024.06.jpg

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本文引用的文献

1
A roadmap to precision treatments for familial pulmonary fibrosis.家族性肺纤维化精准治疗路线图。
EBioMedicine. 2024 Jun;104:105135. doi: 10.1016/j.ebiom.2024.105135. Epub 2024 May 7.
2
European Respiratory Society statement on familial pulmonary fibrosis.欧洲呼吸学会关于家族性肺纤维化的声明。
Eur Respir J. 2023 Mar 16;61(3). doi: 10.1183/13993003.01383-2022. Print 2023 Mar.
3
Idiopathic Pulmonary Fibrosis (an Update) and Progressive Pulmonary Fibrosis in Adults: An Official ATS/ERS/JRS/ALAT Clinical Practice Guideline.
特发性肺纤维化（更新版）和成人进展性肺纤维化：美国胸科学会/欧洲呼吸学会/日本呼吸学会/拉丁美洲胸科学会临床实践指南。
Am J Respir Crit Care Med. 2022 May 1;205(9):e18-e47. doi: 10.1164/rccm.202202-0399ST.
4
Interstitial lung diseases associated with mutations of poly(A)-specific ribonuclease: A multicentre retrospective study.与聚腺苷酸特异性核糖核酸酶突变相关的间质性肺疾病：一项多中心回顾性研究。
Respirology. 2022 Mar;27(3):226-235. doi: 10.1111/resp.14195. Epub 2022 Jan 3.
5
ERS/ATS technical standard on interpretive strategies for routine lung function tests.ERS/ATS 技术标准：常规肺功能测试的解释策略。
Eur Respir J. 2022 Jul 13;60(1). doi: 10.1183/13993003.01499-2021. Print 2022 Jul.
6
Telomere biology disorder prevalence and phenotypes in adults with familial hematologic and/or pulmonary presentations.具有家族性血液学和/或肺部表现的成年人中端粒生物学紊乱的患病率和表型。
Blood Adv. 2020 Oct 13;4(19):4873-4886. doi: 10.1182/bloodadvances.2020001721.
7
From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants.一个家族中存在单等位基因和双等位基因 PARN 致病性变异，表现为不完全外显且端粒长度正常，到严重疾病和端粒缩短。
Hum Mutat. 2019 Dec;40(12):2414-2429. doi: 10.1002/humu.23898. Epub 2019 Sep 15.
8
Management of suspected monogenic lung fibrosis in a specialised centre.在专科中心对疑似单基因性肺纤维化的管理。
Eur Respir Rev. 2017 Apr 26;26(144). doi: 10.1183/16000617.0122-2016. Print 2017 Jun 30.
9
An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis.一项评估罕见基因变异在肺纤维化中作用的外显子组测序研究。
Am J Respir Crit Care Med. 2017 Jul 1;196(1):82-93. doi: 10.1164/rccm.201610-2088OC.
10
Prevalence and characteristics of TERT and TERC mutations in suspected genetic pulmonary fibrosis.疑似遗传性肺纤维化中 TERT 和 TERC 突变的流行情况和特征。
Eur Respir J. 2016 Dec;48(6):1721-1731. doi: 10.1183/13993003.02115-2015. Epub 2016 Nov 11.