Advances in the pathogenesis and molecular regulatory therapy of cystic fibrosis / 中华实用儿科临床杂志

ABSTRACT

Cystic fibrosis (CF) is an autosomal recessive monogenetic disease caused by homozygous and double-heterozygous mutations of the cystic fibrosis transmembrane conductance regulator ( CFTR)gene.The CFTR gene encodes a chloride ion channel protein, which is distributed in the airway, pancreatic duct epithelium and other body parts.CFTR dysfunction will give rise to a series of clinical manifestations.Remarkable achievements have been made in specific molecular regulatory therapy targeting CFTR dysfunction over the past 10 years.CF has thus become a model disease, which provides new approaches for the research on genetics, molecular and cellular pathogenesis, and drug discovery of other rare genetic diseases.In this article, the latest research progress on the pathogenesis and molecular regulatory therapy of CF in recent years was reviewed to improve clinical understanding of the disease mechanism and molecular regulatory therapy.