Høiby N, Koch C, Frederiksen B
Klinisk Mikrobiologisk Afd, Rigshospitalet, København.
Nord Med. 1998 Dec;113(10):328-30.
Cystic fibrosis (CF), the most common life-threatening autosomal recessive disorder in Causcasian populations, is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene on chromosome 7, which encodes a protein that functions as a chloride channel in the apical membrane of epithelial cells. The clinical manifestations comprise recurrent and chronic bronchopulmonary infections, pancreatic insufficiency, and hidrotic salt depletion. Such complications as diabetes, cirrhosis, and respiratory insufficiency develop, resulting in death in the absence of lung transplantation. Treatment is aggressive and comprehensive from the time of diagnosis. Early and intensive treatment of bacterial colonisation and lung infection is correlated with improved prognosis, and monthly follow-up at a CF Centre is mandatory. Mean survival among CF patients at the Danish CF Centre i Copenhagen is more than 40 years. Clinical trials of gene therapy are under way, but results to date have been disappointing.
囊性纤维化（CF）是高加索人群中最常见的危及生命的常染色体隐性疾病，由7号染色体上的囊性纤维化跨膜传导调节因子（CFTR）基因突变引起，该基因编码一种在上皮细胞顶端膜中作为氯离子通道发挥作用的蛋白质。临床表现包括反复和慢性支气管肺部感染、胰腺功能不全以及汗液盐分消耗。会出现糖尿病、肝硬化和呼吸功能不全等并发症，若不进行肺移植最终会导致死亡。从诊断之时起就需积极且全面地进行治疗。对细菌定植和肺部感染进行早期强化治疗与改善预后相关，并且必须每月在囊性纤维化中心进行随访。丹麦哥本哈根囊性纤维化中心的囊性纤维化患者平均生存期超过40年。基因治疗的临床试验正在进行，但迄今为止结果令人失望。
