中国人囊性纤维化临床特点分析OA北大核心CSCDCSTPCD
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…查看全部>>
Objective To explore clinical features, diagnosis, treatment, prognosis and genovariation in Chinese patients 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 accompanied by malnutrition, 4 had hepatomegaly with jaundice, 6 had chronic diarrhea. The diagnoses based on clinical ma…查看全部>>
刘亭威;康健
110001,辽宁省沈阳市,中国医科大学第一附属医院呼吸疾病研究所110001,辽宁省沈阳市,中国医科大学第一附属医院呼吸疾病研究所
医药卫生
囊性纤维化诊断,鉴别囊性纤维化跨膜传导调节因子体征和症状DNA突变分析
Cystic fibrosis Diagnosis, differential Cystic fibrosis transmembrane conductance regulator Signs and symptoms DNA mutational analysis
《中国全科医学》 2012 (24)
2807-2810,4
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