Abstract
囊性纤维化(CF)是一种侵犯多脏器的常染色体隐性单基因遗传的先天性外分泌腺疾病，相关基因位于7号染色体长臂3区1带(7q31.2)，全长约250 kb，共27个外显子。其基因产物CFTR是一种环磷酸腺苷(cAMP)依赖性氯离子通道蛋白，CFTR基因突变导致的CF病变可累及多个器官系统，临床表现多样。CF在新生儿期即明确诊断病例少见。在新生儿期及时做相关基因检测，可明确诊断，防止漏诊。
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