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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 investigate the incidence of cystic fibrosis, diagnosis and treatment. Methods According to the clinical data of 1 female and 14 years old cystic fibrosis patients and the clinical features, diagnosis methods and prognosis of 16 Chinese cystic fibrosis patients published at home and abroad, a comprehensive analysis was made. Results The patients presented with recurrent respiratory tract infections with sinusitis and otitis media. Bronchial dilation was predominant in the upper lobe of lung and the contents of Na + (12 6 6 ± 5 4) mmol / L, Cl- (10 8 9) ± 3 3) mmol / L, both increased (normal <6 0mmol / L), normal pancreas function. Reported in the literature of patients, 7 males and 9 females; confirmed age 6 months to 25 years old; 11 cases of clear death, 9 cases of death less than 13 years of age; clinical manifestations of recurrent lung infections, with malnutrition 14 Cases, lesions involving the liver jaundice in 4 cases; diagnosis mainly based on clinical manifestations, electrolyte and perspiration examination, and autopsy, of which 4 cases were found by genetic analysis of cystic fibrosis transmembrane conductance regulator (CFTR) mutations are rare mutations. Conclusions The clinical manifestations of cystic fibrosis in Chinese are similar to those of Caucasians, but the mutation site of CFTR may be different from Caucasians.