Clinical Features,Genotype-Phenotype Correlations and Therapeutic Advances in Children Cystic Fibrosis
10.3870/j.issn.1004-0781.2025.12.017
- VernacularTitle:儿童囊性纤维化的临床特征和基因型-表型及治疗进展
- Author:
Ling ZHU
1
;
Jia LI
1
;
Huaqin BU
1
;
Tian YANG
1
;
Daiyin TIAN
1
Author Information
1. 重庆医科大学附属儿童医院呼吸科,国家儿童健康与疾病临床医学研究中心,儿童发育疾病研究教育部重点实验室,儿童感染与免疫罕见病重庆市重点实验室,重庆 400016
- Publication Type:Journal Article
- Keywords:
Children cystic fibrosis;
Cystic fibrosis transmembrane conductance regulator;
Genotype-phenotype;
Cystic fibrosis transmembrane conductance regulator modulators
- From:
Herald of Medicine
2025;44(12):1990-1997
- CountryChina
- Language:Chinese
-
Abstract:
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.
