Abstract: Cystic fibrosis is an autosomal recessive genetic disease involving multiple systems, mainly manifested as chronic and progressive obstructive pulmonary disease, accompanied by other multi-system involvement, and the fatality rate is very high. By analyzing the clinical characteristics and genetic variation of cystic fibrosis in two siblings in a family, it is hoped to improve the clinicians' understanding of the disease so as to intervene early and reduce the mortality.

Key words: Cystic fibrosis, Obstructive pulmonary disease, CFTR gene