目的提高对囊性纤维化的认识。方法 2011年11月收治1例自幼有临床表现的囊性纤维化患者,回顾其诊断及治疗经过,复习相关文献总结其临床特征、诊疗进展及预后评价。结果囊性纤维化起病年龄较早,患者自幼年起即反复出现肺、消化道、肝脏等多系统病变,最终导致多器官功能衰竭。结论应提高对囊性纤维化的识别度,对于发病年龄过早、反复发作的严重支气管扩张,伴随生长发育延迟、肝硬化等临床征象应注意对囊性纤维化的筛查。 Objective To improve the understanding of cystic fibrosis. Methods One case of cystic fibrosis who had clinical manifestations in November 2011 was reviewed. The diagnosis and treatment were reviewed. Relevant literatures were reviewed to summarize the clinical features, diagnosis and treatment progress and prognosis evaluation. Results The age of onset of cystic fibrosis was earlier. Since the very beginning of childhood, multiple pathological changes such as lung, digestive tract and liver occurred repeatedly, leading to multiple organ failure. Conclusions The identification of cystic fibrosis should be improved. Serious cystic fibrosis should be screened for the clinical signs of severe bronchiectasis with early onset and recurrent episodes, accompanying with the growth and development delay, and cirrhosis.