Genetic and clinical characteristics of pediatric patients with cystic fibrosis: a single-center retrospective study in China.

BACKGROUND: Despite the increasing recognition of cystic fibrosis (CF) in China, few cases have been reported in the Xinjiang Uyghur Autonomous Region (Xinjiang), which is located in China’s northwest with a diverse ethnic composition. This study aimed to describe the genotype and clinical phenotype of children with CF in Xinjiang. METHODS: We recruited children diagnosed with CF at the Children’s Hospital of Xinjiang Uygur Autonomous Region between January 2012 and December 2025. The demographic data, imaging findings, laboratory test results, and genetic data were retrospectively reviewed. RESULTS: A total of 19 patients from 18 families were enrolled. The median age at diagnosis was 9.8 years. Among them, 15 (78.9%) were Uygur, 3 (15.8%) Kazakh, and 1 (5.3%) Mongolian. Fifteen distinct cystic fibrosis transmembrane conductance regulator (CFTR) mutations were identified, with c.1521_1523delCTT (p. F508del) being the most common (allele frequency: 36.1%). Mutations of c.1860T > G (p.H620Q), c.2991 G > C  (p.L997F), del ex4-11, c.3254 A > G (p.H1085R), c.2619 + 1G > A, c.349 C > T (p.R117C), c.3909 C > G (p.N1303K), and c.1911delA > G (p.G637Hfs*26)—which have never been reported in Chinese populations—were observed. Bronchiectasis was observed in 84.2% of patients, with allergic bronchopulmonary aspergillosis noted in 36.8%. Pseudomonas aeruginosa (78.9%) and Staphylococcus aureus (47.4%) were the predominant pathogens. Additionally, 78.9% had pancreatic insufficiency, 21.1% had CF-related liver disease, 21.1% had Pseudo-Bartter syndrome, and 5.3% had diabetes. CONCLUSION: CF may be significantly underdiagnosed in Xinjiang, China. The genotypic spectrum in children with CF in this multiethnic region differs considerably from previous reports, mainly focusing on the Han population, with p.F508del as the most frequent CFTR mutation.