与ABCA3基因突变相关的联合肺纤维化和肺气肿综合征 - Suppr

Suppr

超能文献

Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations.

作者信息

Epaud Ralph, Delestrain Céline, Louha Malek, Simon Stéphanie, Fanen Pascale, Tazi Abdellatif

机构信息

U955, Equipe 11, Créteil.

出版信息

Eur Respir J. 2014 Feb;43(2):638-41. doi: 10.1183/09031936.00145213. Epub 2013 Oct 17.

DOI:10.1183/09031936.00145213

PMID:24136335

Abstract

摘要

相似文献

Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations.与ABCA3基因突变相关的联合肺纤维化和肺气肿综合征

Eur Respir J. 2014 Feb;43(2):638-41. doi: 10.1183/09031936.00145213. Epub 2013 Oct 17.

Combined pulmonary fibrosis and emphysema syndrome associated with familial SFTPC mutation.与家族性SFTPC突变相关的合并肺纤维化和肺气肿综合征

Thorax. 2011 Oct;66(10):918-9. doi: 10.1136/thx.2010.151407. Epub 2011 Jan 19.

ABCA3 mutations led to pulmonary fibrosis and emphysema with pulmonary hypertension in an 8-year-old girl.ABCA3基因突变导致一名8岁女孩出现肺纤维化、肺气肿并伴有肺动脉高压。

Pediatr Pulmonol. 2016 Jun;51(6):E21-3. doi: 10.1002/ppul.23379. Epub 2016 Jan 18.

[Combined pulmonary fibrosis and emphysema].[合并性肺纤维化和肺气肿]

Zhonghua Jie He He Hu Xi Za Zhi. 2013 Apr;36(4):248-9.

[Pulmonary surfactant protein adenosine triphosphate-binding-cassette-A3 gene composite mutations in infant congenital interstitial lung disease: report of a case and review of literature].[婴儿先天性间质性肺疾病中肺表面活性物质蛋白三磷酸腺苷结合盒式转运体A3基因复合突变：1例报告并文献复习]

Zhonghua Er Ke Za Zhi. 2016 Oct 2;54(10):761-766. doi: 10.3760/cma.j.issn.0578-1310.2016.10.010.

HRCT evident fibrosis in isolated pulmonary emphysema.高分辨率计算机断层扫描（HRCT）显示单纯性肺气肿中有明显纤维化。

J Comput Assist Tomogr. 1997 Mar-Apr;21(2):322-3. doi: 10.1097/00004728-199703000-00031.

Combined pulmonary fibrosis and emphysema (CPFE): what radiologist should know.肺纤维化合并肺气肿（CPFE）：放射科医生应该知道什么。

Radiol Med. 2016 Jul;121(7):564-72. doi: 10.1007/s11547-016-0627-4. Epub 2016 Feb 19.

Pathological and radiological correlation in an autopsy case of combined pulmonary fibrosis and emphysema.一例合并肺纤维化和肺气肿尸检病例的病理与放射学相关性

Int J Chron Obstruct Pulmon Dis. 2015 Jul 8;10:1299-303. doi: 10.2147/COPD.S83521. eCollection 2015.

[Association of idiopathic pulmonary fibrosis and emphysema. An instructive case].

Radiol Med. 1992 May;83(5):656-9.

Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation.ABCA3基因突变的杂合性改变了与表面活性蛋白C基因（SFTPC）突变相关的肺部疾病的严重程度。

Pediatr Res. 2007 Aug;62(2):176-9. doi: 10.1203/PDR.0b013e3180a72588.

引用本文的文献

Respirol Case Rep. 2025 Jul 30;13(8):e70304. doi: 10.1002/rcr2.70304. eCollection 2025 Aug.

Genetics and Genomics of Pulmonary Fibrosis: Charting the Molecular Landscape and Shaping Precision Medicine.肺纤维化的遗传学和基因组学：描绘分子图谱，塑造精准医学。

Am J Respir Crit Care Med. 2024 Aug 15;210(4):401-423. doi: 10.1164/rccm.202401-0238SO.

Idiopathic pulmonary fibrosis and the role of genetics in the era of precision medicine.特发性肺纤维化与精准医学时代遗传学的作用。

Front Med (Lausanne). 2023 Apr 27;10:1152211. doi: 10.3389/fmed.2023.1152211. eCollection 2023.

Combined Pulmonary Fibrosis and Emphysema: When Scylla and Charybdis Ally.肺纤维化合并肺气肿：当斯库拉和卡律布狄斯结盟。

Cells. 2023 Apr 28;12(9):1278. doi: 10.3390/cells12091278.

Thorax. 2023 Jun;78(6):587-595. doi: 10.1136/thorax-2022-219434. Epub 2023 Feb 20.

The world of rare interstitial lung diseases.罕见间质性肺疾病的世界。

Eur Respir Rev. 2023 Feb 7;32(167). doi: 10.1183/16000617.0161-2022. Print 2023 Mar 31.

The clinical course of interstitial lung disease in an adult patient with an ABCA3 homozygous complex allele under hydroxychloroquine and a review of the literature.一名成年患者携带ABCA3纯合复合等位基因，在接受羟氯喹治疗下的间质性肺疾病临床病程及文献综述

Sarcoidosis Vasc Diffuse Lung Dis. 2022;39(2):e2022019. doi: 10.36141/svdld.v39i2.12730. Epub 2022 Jun 29.

Syndrome of Combined Pulmonary Fibrosis and Emphysema: An Official ATS/ERS/JRS/ALAT Research Statement.特发性肺纤维化合并肺气肿综合征：美国胸科学会/欧洲呼吸学会/日本呼吸学会/拉丁美洲胸科学会联合官方声明。

Am J Respir Crit Care Med. 2022 Aug 15;206(4):e7-e41. doi: 10.1164/rccm.202206-1041ST.

Chronic Obstructive Pulmonary Disease Combined with Interstitial Lung Disease.慢性阻塞性肺疾病合并间质性肺疾病

Tuberc Respir Dis (Seoul). 2022 Apr;85(2):122-136. doi: 10.4046/trd.2021.0141. Epub 2022 Jan 27.

The Role of Genetic Testing in Pulmonary Fibrosis: A Perspective From the Pulmonary Fibrosis Foundation Genetic Testing Work Group.遗传检测在肺纤维化中的作用：来自肺纤维化基金会遗传检测工作组的观点。

Chest. 2022 Aug;162(2):394-405. doi: 10.1016/j.chest.2022.03.023. Epub 2022 Mar 23.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验