儿童囊性纤维化一例及其基因型文献复习

囊性纤维化(CF)是一种常染色体隐性遗传疾病,白种人多见,中国尚无发病情况的流行病学统计数据。CF主要影响外分泌腺功能,是一种累及呼吸系统、消化系统、汗腺和生殖道的多系统疾病。中国囊性纤维化儿童的基因型及表型与国外报道存在差异,部分位点在国外相关数据库尚未见报道,中国CF儿童基因变异c.1766+5G>T和c.263T>G出现频率较高,目前主要临床特征有反复咳嗽咳痰,支气管扩张,痰培养铜绿假单胞菌,鼻窦炎,胰腺功能不全,营养不良。应该进一步研究中国人群CFTR基因突变谱,结合不同的临床特征,探索中国人基因型与临床表型之间的关系。

Cystic fibrosis: case report of a child and literature review of the genotype

Cystic fibrosis (CF) is an autosomal recessive genetic disease, which is common in Caucasians. Epidemiological data of CF is lacking in China. Cystic fibrosis is a systemic disease mainly affecting exocrine glands and leading to impaired secretory function involving respiratory system, digestive system, sweat glands and reproductive tract. The genotypes and phenotypesSof Chinese CF patients are different from foreign countries. Some mutation sites have not been reported in foreign databases. The frequencies of the two mutations (c.1766+5G>T and c.263T>G) are high. At present, the main clinical characteristics include recurrent cough, bronchiectasis, sputum culture of Pseudomonas aeruginosa, sinusitis, pancreatic insufficiency and malnutrition. Further study of the CFTR gene mutation spectrum in Chinese population, and exploration of the relationship between genotypes and clinical phenotypes according to different clinical features are needed.