囊性纤维化一例报告并文献复习

A case report of cystic fibrosis and review of 16 cases of cystic fibrosis in Chinese patients

目的 探讨囊性纤维化的发病特点、诊断和治疗方法。方法 结合收治的 1例女性 ,14岁囊性纤维化患者的临床资料及国内外已正式发表的 16例中国人囊性纤维化患者的临床特点、诊断方法和转归进行综合分析。结果 本例患者表现为反复呼吸道感染 ,伴副鼻窦炎和中耳炎 ;影像学显示肺上叶为主的支气管扩张 ,汗液电解质Na+ (12 6 6± 5 4 )mmol/L、Cl-(10 8 9± 3 3)mmol/L ,均增高(正常值均 <6 0mmol/L) ,胰腺功能正常。文献报道的患者中 ,男 7例 ,女 9例 ;确诊年龄 6个月～ 2 5岁 ;明确死亡 11例 ,9例死亡年龄小于 13岁 ;临床表现均有反复肺部感染 ,伴营养不良 14例 ,病变累及肝脏出现黄疸 4例 ;诊断主要根据临床表现、汗液电解质检查和尸检 ,其中 4例经基因分析发现囊性纤维化穿膜传导调节因子 (CFTR)有突变 ,均为少见突变。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。

Objective To report a case of cystic fibrosis (CF) in a Chinese and to review the clinical features, gene mutations, diagnosis and outcome of CF in Chinese patients. Methods A 14-year-old Chinese girl presenting with recurrent productive cough since birth with parasinusitis and otitis media was confirmed to have CF in Peking University First Hospital. Chest CT scan showed bronchiectasis, more severe in the right upper lobe. Sweat tests were taken three times, and the values of Na + and Cl - were (126.6±5.4) mmol/L and (108.9±3.3) mmol/L, respectively. The examination of the pancreas showed no remarkable cystic changes on CT scan and there was no pancreatic insufficiency. Sixteen patients with CF in Chinese reported from 1974 to 1999 were reviewed. Results Sixteen of the 17 patients (7 males and 9 females, aged from 6 months to 25 years) had clinical data available for analysis. Eleven of them had died, nine before the age of 13. They all suffered from frequent episodes of pneumonia, while 14 had malnutrition and 4 had jaundice. The diagnostic procedures included clinical features, sweat test and autopsy. Four of them had DNA screened and four kinds of novel mutations in the cystic fibrosis transmembrane conductance regulator gene were found. Conclusions Chinese patients with CF show similar clinical manifestations to patients in the European and North American populations, but the CFTR mutation was different.