Cystic fibrosis(CF)is an autosomal recessive genetic disorder caused by mutations of the gene encoding the cystic fibrosis transmembrane conductance regulator(CFTR),which disrupts chloride ion transport across cell membranes,leading to multi-system involvement.The respiratory system is the most affected organ and the leading cause of mortality in affected children.With increased awareness and advancements in genetic testing,the number of diagnosed cases has increased in China.Notably,the genetic mutation profiles and clinical phenotypes of Chinese CF patients are significantly different from those reported in Western populations,posing challenges for clinical diagnosis and management.Currently,significant progress has been made in the treatment of CF in the international arena,with genotype-phenotype studies laying the foundation for personalized therapy,and small-molecule therapies such as CFTR modulators offering new hope for CF patients.This review summarizes the pathogenesis,clinical features,genotype-phenotype correlations,and therapeutic advancements in CF,aiming to enhance clinicians'understanding of the disease,reduce misdiagnosis and underdiagnosis,and facilitate early diagnosis and treatment.

Cystic fibrosis(CF)is an autosomal recessive genetic disorder caused by mutations of the gene encoding the cystic fibrosis transmembrane conductance regulator(CFTR),which disrupts chloride ion transport across cell membranes,leading to multi-system involvement.The respiratory system is the most affected organ and the leading cause of mortality in affected children.With increased awareness and advancements in genetic testing,the number of diagnosed cases has increased in China.Notably,the genetic mutation profiles and clinical phenotypes of Chinese CF patients are significantly different from those reported in Western populations,posing challenges for clinical diagnosis and management.Currently,significant progress has been made in the treatment of CF in the international arena,with genotype-phenotype studies laying the foundation for personalized therapy,and small-molecule therapies such as CFTR modulators offering new hope for CF patients.This review summarizes the pathogenesis,clinical features,genotype-phenotype correlations,and therapeutic advancements in CF,aiming to enhance clinicians'understanding of the disease,reduce misdiagnosis and underdiagnosis,and facilitate early diagnosis and treatment.