DOI: 10.1002/ame2.12180
A review of cystic fibrosis: Basic and clinical aspects
Qionghua Chen1
Yuelin Shen2
Jingyang Zheng3
1.Department No.2 of Respiratory Medicine,Beijing Children's Hospital,Capital Medical University,National Center for Children'sHealth,Beijing,China;Department of Respiratory Medicine,Quanzhou Children's Hospital,Fujian Province,Quanzhou,China2.Department No.2 of Respiratory Medicine,Beijing Children's Hospital,Capital Medical University,National Center for Children'sHealth,Beijing,China3.Department of Respiratory Medicine,Quanzhou Children's Hospital,Fujian Province,Quanzhou,China
摘要：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 infor-mation toward reducing CF misdiagnosis and missed diagnosis rates.
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论文发表日期：2021-09-25
在线出版日期：2025-08-15（本平台首次上网日期，不代表文献的发表时间）
页数：13( 220-232 )
英文信息