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F508del囊性纤维化变异杂合子患者临床表现的变异性:三例病例系列及文献综述

Variability of Clinical Presentation in Patients Heterozygous for the F508del Cystic Fibrosis Variant: A Series of Three Cases and a Review of the Literature.

作者信息

Raymond Caitlin M, Gaul Simon P, Han Song, Huang Gengming, Dong Jianli

机构信息

Pathology, University of Texas Medical Branch, Galveston, USA.

Medicine, University of Texas Medical Branch, John Sealy School of Medicine, Galveston, USA.

出版信息

Cureus. 2023 Jun 9;15(6):e40185. doi: 10.7759/cureus.40185. eCollection 2023 Jun.

Abstract

Cystic fibrosis (CF) is a genetic disease that affects the lung, pancreas, and other organs caused by the presence of biallelic CF-causing variants in the cystic fibrosis conductance regular gene (CFTR). CFTR variants can also be found in CFTR-related disorders (CFTR-RD), which present milder symptoms. Increasing access to next-generation sequencing has demonstrated that both CF and CFTR-RD have a broader array of genotypes than formerly thought. Here we present three patients who carry the most common CFTR pathogenic variant - F508del - but express a wide array of phenotypes. These cases open discussion on the role of concurrent variants in CFTR, the importance of early diagnosis and treatment, and the contribution of lifestyle factors in CF and CFTR-RD presentation.

摘要

囊性纤维化(CF)是一种遗传性疾病,由囊性纤维化跨膜传导调节基因(CFTR)中双等位基因致病变异的存在而影响肺部、胰腺和其他器官。CFTR变异也可在CFTR相关疾病(CFTR-RD)中发现,这些疾病症状较轻。新一代测序技术的普及表明,CF和CFTR-RD的基因型比以前认为的更为广泛。在此,我们介绍三名携带最常见CFTR致病变异——F508del,但表现出广泛表型的患者。这些病例引发了关于CFTR并发变异的作用、早期诊断和治疗的重要性以及生活方式因素在CF和CFTR-RD表现中的作用的讨论。

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本文引用的文献

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