A review of cystic fibrosis: Basic and clinical aspects. Issue 3 (16th September 2021)

• Record Type: Journal Article
• Authors: Chen, Qionghua; Shen, Yuelin; Zheng, Jingyang
• Is Part Of: Animal models and experimental medicine. Volume 4:Issue 3(2021)
• Page Start: 220
• Page End: 232
• Publication Date: 2021-09-16
• Subjects: animal model -- CFTR -- Chinese -- clinical feature -- cystic fibrosis -- mutation; Laboratory animals -- Periodicals; Diseases -- Animal models -- Periodicals; Animal models in research -- Periodicals; Veterinary medicine -- Periodicals; Laboratory Animal Science; Disease Models, Animal; Animals, Laboratory; Animal Welfare; Veterinary Medicine; Animal models in research; Diseases -- Animal models; Laboratory animals; Veterinary medicine; Periodicals; Fulltext; Internet Resources; Periodicals; Periodicals; 616.0273
• DOI: 10.1002/ame2.12180
• Languages: English
• ISSNs: 2576-2095

Abstract

Abstract: Cystic fibrosis is an autosomal recessive disease caused by mutations of the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR). Here we summarize, at the basic descriptive level, clinical and genetic characteristics of cystic fibrosis gene mutations, while emphasizing differences between CF mutations found in Chinese pediatric CF patients compared to those found in Caucasian CF patients. In addition, we describe animal models used to study human cystic fibrosis disease and highlight unique features of each model that mimic specific human CF‐associated signs and symptoms. At the clinical level, we summarize CF clinical manifestations and diagnostic, treatment, and prognostic methods to provide clinicians with information toward reducing CF misdiagnosis and missed diagnosis rates. Abstract : Cystic fibrosis is an autosomal recessive disease caused by mutations of the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR). We summarize clinical and genetic characteristics of cystic fibrosis gene mutations, as well as animal models used to study human cystic fibrosis disease.