[Clinical characteristics and genetic spectrum of adults with primary ciliary dyskinesia].

Objective

To characterize the clinical features and genetic variant spectrum of adult patients with primary ciliary dyskinesia (PCD) in China and to explore phenotypic differences across distinct genotypes, with a focus on comparisons among commonly detected genetic variants.

Methods

This study was a single-center, retrospective cohort investigation that enrolled 73 adult patients diagnosed with PCD at the Second Xiangya Hospital of Central South University between January 2015 and March 2025. Females patients comprised 58.9% (43/73) of the cohort, and the median age at diagnosis was 30.0 (23.5-39.0) years. Demographic and clinical data were collected, and follow-up was conducted by telephone to assess outcomes. Phenotypic differences were compared across common genotypes (DNAH11, DNAH5, RSPH4A, and CCDC40). Continuous variables were summarized as M (Q1, Q3) and analyzed using non-parametric tests, while categorical variables were assessed using Fisher's exact test.

Results

Among the 73 enrolled patients, 71 were diagnosed with PCD through genetic testing, and 2 were diagnosed by transmission electron microscopy. A history of consanguinity was reported in 47.9% (35/73) of cases. Situs inversus was present in 50.7% (37/73). CT demonstrated rhinosinusitis in 95.5% of patients (64/67), and bronchiectasis was observed in all patients (100%, 73/73). The most frequently identified genotypes were DNAH11 (17/71), DNAH5 (10/71), RSPH4A (5/71), and CCDC40 (5/71). Among these genotypes, significant differences were observed in the prevalence of female infertility (P<0.001) and the severity of bronchiectasis as measured by the Reiff score (P=0.013). Over a median follow-up period of 5.5 (2.3-6.8) years, seven patients (9.6%) died from pulmonary infections complicated by respiratory failure.

Conclusion

Adult patients with PCD exhibit substantial clinical and genetic heterogeneity, accompanied by significant genotype-phenotype correlations.