一名汗液氯化物正常的青春期女孩中的复合杂合性囊性纤维化跨膜传导调节因子（CFTR）突变 - Suppr

Compound Heterozygous Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutation in An Adolescent Girl with Normal Sweat Chloride.

作者信息

Rajesh Balan, Sruthi Mangalath, Vinoth Ponnurangam Nagarajan

机构信息

Department of Pediatrics, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India.

出版信息

Indian J Pediatr. 2025 Aug;92(8):896. doi: 10.1007/s12098-025-05620-9. Epub 2025 Jun 27.

DOI:10.1007/s12098-025-05620-9

PMID:40576730

Abstract

摘要

相似文献

Compound Heterozygous Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutation in An Adolescent Girl with Normal Sweat Chloride.

Indian J Pediatr. 2025 Aug;92(8):896. doi: 10.1007/s12098-025-05620-9. Epub 2025 Jun 27.

Evaluation of elexacaftor-tezacaftor-ivacaftor treatment in individuals with cystic fibrosis and CFTR in the USA: a prospective, multicentre, open-label, single-arm trial.

Lancet Respir Med. 2024 Dec;12(12):947-957. doi: 10.1016/S2213-2600(24)00205-4. Epub 2024 Aug 26.

Cystic Fibrosis

A mutation in the cystic fibrosis transmembrane conductance regulator gene associated with elevated sweat chloride concentrations in the absence of cystic fibrosis.

Hum Mol Genet. 1998 Apr;7(4):729-35. doi: 10.1093/hmg/7.4.729.

Vanzacaftor-tezacaftor-deutivacaftor versus elexacaftor-tezacaftor-ivacaftor in individuals with cystic fibrosis aged 12 years and older (SKYLINE Trials VX20-121-102 and VX20-121-103): results from two randomised, active-controlled, phase 3 trials.

Lancet Respir Med. 2025 Mar;13(3):256-271. doi: 10.1016/S2213-2600(24)00411-9. Epub 2025 Jan 2.

Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations.

J Pediatr. 1995 Nov;127(5):705-10. doi: 10.1016/s0022-3476(95)70157-5.

A CFTR corrector (lumacaftor) and a CFTR potentiator (ivacaftor) for treatment of patients with cystic fibrosis who have a phe508del CFTR mutation: a phase 2 randomised controlled trial.

Lancet Respir Med. 2014 Jul;2(7):527-38. doi: 10.1016/S2213-2600(14)70132-8. Epub 2014 Jun 24.

Role of CFTR mutation analysis in the diagnostic algorithm for cystic fibrosis.

World J Pediatr. 2017 Apr;13(2):129-135. doi: 10.1007/s12519-017-0015-8. Epub 2017 Feb 15.

A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations.

N Engl J Med. 1994 Oct 13;331(15):974-80. doi: 10.1056/NEJM199410133311503.

In vivo and in vitro ivacaftor response in cystic fibrosis patients with residual CFTR function: N-of-1 studies.

Pediatr Pulmonol. 2017 Apr;52(4):472-479. doi: 10.1002/ppul.23659. Epub 2017 Jan 9.

本文引用的文献

Identification and Characterization of a Rare Exon 22 Duplication in in Two Families.

Int J Mol Sci. 2025 May 8;26(10):4487. doi: 10.3390/ijms26104487.

Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in China.

J Med Genet. 2022 Jul 20;60(3):310-5. doi: 10.1136/jmg-2022-108501.

Cystic fibrosis with normal sweat chloride concentration--case report.

Rev Hosp Clin Fac Med Sao Paulo. 2003 Sep-Oct;58(5):260-2. doi: 10.1590/s0041-87812003000500005. Epub 2003 Nov 11.

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

Compound Heterozygous Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutation in An Adolescent Girl with Normal Sweat Chloride.

作者信息

机构信息

出版信息

相似文献

本文引用的文献

文献AI研究员

用中文搜PubMed

文档翻译

Suppr 超能文献

相似文献

本文引用的文献