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Updated: Jan 7, 2026

Nasal Brushing Sampling and Processing Using Digital High Speed Ciliary Videomicroscopy – Adaptation for the COVID-19 Pandemic
Published on: November 7, 2020
[Clinical characteristics and genetic spectrum of adults with primary ciliary dyskinesia]
1Department of Respiratory and Critical Care Medicine, The Second Xiangya Hospital of Central South University, Research Unit of Respiratory Disease, Central South University, Hunan Diagnosis and Treatment Center of Respiratory Disease, Hunan Clinical Medical Research Center for Pulmonary and Critical Care Medicine, Changsha 410011, China.
Abstract:
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.
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