中国人囊性纤维化临床特点分析

Analysis of Clinical Features of Cystic Fibrosis in Chinese

目的探讨中国人囊性纤维化的发病特点、诊断、治疗和预后及基因变异。方法对从中国生物医学文献数据库(CBM)和Medline数据库检索的26例中国囊性纤维化患者的临床资料进行分析,总结该病的临床表现、诊断方法和转归。结果 26例患者均有反复呼吸道感染,伴营养不良20例,肝肿大且合并黄疸4例,存在慢性腹泻6例;诊断主要根据临床表现、汗液电解质检查和尸检,其中10例经基因分析发现囊性纤维化跨膜传导调节因子(CFTR)有突变,其中9例为少见突变。26例患者中死亡12例。结论中国人囊性纤维化临床表现与白种人表现相似,但是CFTR基因突变部位可能与白种人不同;囊性纤维化的诊断主要根据临床表现、汗液电解质检查和尸检;该病的预后较差。

Objective To explore clinical features, diagnosis, treatment, prognosis and genovariation in Chinese pa- tients with cystic fibrosis （CF）. Methods Clinical data of 26 Chinese CF patients retrieved from CBM disc for WINDOWS （CBM） and Medline database were analyzed. Results All 26 patients suffered from recurrent respiratory infection, 20 accom- panied by malnutrition, 4 had hepatomcgaly with jaundice, 6 had chronic diarrhea. The diagnoses based on clinical manifesta- tions, sweat electrolyte examinations and autopsy; 10 mutations were found, by genetic analysis, in CF transmembrane conduct- ance regulator in ten patients, including 9 rare mutations. Twelve patients died. Conclusion The clinical manifestations of Chinese CF are similar to those of White people, but CFTR mutable site different. The diagnosis of CF is based on manifesta- tions, sweat electrolyte examinations and autopsy. This disease has bad prognosis.