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 ge...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.展开更多
基金This work was supported by the National Natural Science Foundation of China(81600002)Science and Technology Project of Quanzhou,Fujian Province(2020N050s).
文摘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.
