ISSN 1674-3865  CN 21-1569/R
主管：国家卫生健康委员会
主办：中国医师协会
　　　辽宁省基础医学研究所
　　　辽宁中医药大学附属医院
中国中西医结合儿科学

中国中西医结合儿科学 ›› 2023, Vol. 15 ›› Issue (5): 439-442.doi: 10.3969/j.issn.1674-3865.2023.05.016

• 临床研究 • 上一篇    下一篇

CFTR基因突变致囊性纤维化家系报道及文献复习

王丽, 刘瑞寒, 李秋波, 辛美云   

  1. 272029 山东 济宁，济宁医学院附属医院儿科
  • 收稿日期:2023-06-16 出版日期:2023-10-25 上线日期:2023-10-25
  • 通讯作者: 辛美云，E-mail:xinmeiyun@126.com
  • 基金资助:
    山东省医药卫生科技发展计划项目（202006010928）

A family report and literature review of cystic fibrosis caused by CFTR gene mutation

WANG Li, LIU Ruihan, LI Qiubo, XIN Meiyun   

  1. Affiliated Hospital of Jining Medical University，Jining 272029，China
  • Received:2023-06-16 Published:2023-10-25 Online:2023-10-25
  • Contact: XIN Meiyun，E-mail:xinmeiyun@126.com

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摘要： 囊性纤维化是一种累及多系统的常染色体隐性遗传病，主要表现为慢性、进行性阻塞性肺部疾病，伴有其他多系统受累，致死率非常高。通过分析一家系中兄妹两人同患囊性纤维化的临床特点及基因变异，提高临床医生对该疾病的认识，及早干预治疗，降低死亡率。

关键词: 囊性纤维化, 阻塞性肺疾病, CFTR基因

Abstract: Cystic fibrosis is an autosomal recessive genetic disease involving multiple systems, mainly manifested as chronic and progressive obstructive pulmonary disease, accompanied by other multi-system involvement, and the fatality rate is very high. By analyzing the clinical characteristics and genetic variation of cystic fibrosis in two siblings in a family, it is hoped to improve the clinicians' understanding of the disease so as to intervene early and reduce the mortality.

Key words: Cystic fibrosis, Obstructive pulmonary disease, CFTR gene