目的　探讨中国人群囊性纤维化基因型与临床表型的关系。方法　回顾分析2015年3月收治的1例囊性纤 维化患儿的临床资料，并复习相关文献。结果　患儿，女，生后不久开始出现反复咳嗽、咳痰，肺部感染。 9岁就诊时有重 度营养不良，杵状指（趾），副鼻窦区压痛，双肺散在湿罗音；实验室检查提示胰腺炎；影像学检查提示合并鼻窦炎及支气 管扩张；全外显子基因组测序示CFTR基因复合杂合变异，等位基因1，c.1766+5G>T（NM_000492.3）剪接突变；等位基 因2，c.2805delA:p.L935fs（NM_000492）移码突变；检出基因型匹配囊性纤维化临床表型。检索建库至2018年7月中国 知网、万方及PubMed数据库，以“囊性纤维化”和“基因”为关键词组合检索，共检索到7篇文献，报道9例包含c.1766+5G>T 位点变异的囊性纤维化患儿，加上该例共10例。10例患儿均为中国人，且均以反复咳嗽、咳痰等肺部感染为主要表现，多 数合并支气管扩张，仅部分合并胰腺功能不全。结论　c.1766+5G>T位点可能是中国人特有的CFTR基因变异位点，与 c.2805delA:p.L935fs变异构成新的复合杂合变异，其临床表型主要以呼吸道感染为主，较少累及消化道。

Objective　To explore the relationship between cystic fibrosis genotype and clinical phenotype in Chinese population. Method　The clinical data of cystic fibrosis in a child admitted in March 2015 were retrospectively analyzed, and the related literature was reviewed. Results　A girl began to develop recurrent cough and expectoration and pulmonary infection shortly after birth. At the age of 9, the patient was found to have severe malnutrition, clubbing fingers (toes), tenderness in the paranasal sinus area, and scattered rales in both lungs. Laboratory examination suggested pancreatitis; imaging examination suggested sinusitis and bronchiectasis. Whole exon genome sequencing detected complex heterozygous mutations of CFTR gene including splicing mutation of c.1766+5G>T (NM_000492.3) in allele 1 and frameshift mutation of c.2805delA:p.L935fs (NM_000492) in allele 2, which matched the clinical phenotype of cystic fibrosis. The databases of CNKI, Wanfang and PubMed were searched with "cystic fibrosis" and "gene" as key words up to July 2018. A total of 7 articles were retrieved and 9 cases of cystic fibrosis with c.1766+5G>T mutations were reported. Including 1 case in this study, a total of 10 cases of cystic fibrosis were reported. All the 10 children were Chinese and the main manifestations were recurrent cough and expectoration. Most of them were complicated with bronchiectasis, and only some of them were complicated with pancreatic insufficiency. Conclusion The c.1766+5G>T locus may be the unique mutation site of CFTR gene in China. It is a new complex heterozygous variant with c.2805 delA:p.L935fs mutation. Its clinical phenotype is mainly respiratory tract infection and digestive tract is rarely involved.