Clinical and genetic spectrum of primary ciliary dyskinesia in Chinese patients: a systematic review

Orphanet J Rare Dis. 2022 Jul 19;17(1):283. doi: 10.1186/s13023-022-02427-1.


Background: Primary ciliary dyskinesia (PCD) represents a highly heterogenous disorder with extensive clinical and genetic patterns among populations of different geographic location and ethnic origin. However, data about Chinese patients are limited. We aimed to summarize the clinical and genetic spectrum of Chinese PCD patients based on all available literatures.

Methods: We searched Embase, Pubmed, Web of Science and Chinese databases including CNKI, SinoMed and Wanfang from 1981 to 2021, to identify articles reporting patients with PCD in China, which had included information about transmission electron microscopy and/or genetic testing.

Results: A total of 244 Chinese PCD patients in 52 articles were included. Of these patients, the mean age was 13.1 years, and 55 patients (22.5%) were diagnosed with PCD after 18 years old. Compared with patients diagnosed with PCD in childhood or infancy, patients diagnosed with PCD in adulthood had a higher prevalence of chronic wet cough, sinusitis, Pseudomonas aeruginosa (PA) isolation and radiological bronchiectasis as well as worse lung function. 25 PCD-related genes were identified in 142 patients, and DNAH5, DNAH11, CCDC39 and CCDC40 were the most frequently detected mutations. More than half of genetic variants were loss-of-function mutations, and the majority of these variants were seen only once. Correlations between PCD phenotype, genotype and ciliary ultrastructure were also evidenced.

Conclusions: Diagnostic delay and under-recognition of PCD remain a big issue in China, which contributes to progressive lung disease and PA infection indicating worse outcome. Specialist equipment and expertise are urgently required to facilitate the early diagnosis and treatment of PCD.

Trial registry: PROSPERO; No.: CRD42021257804; URL:

Keywords: Cilia; Genotype; PCD; Phenotype; Systematic review.

Publication types

  • Review
  • Systematic Review
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cilia / genetics
  • Cilia / ultrastructure
  • Ciliary Motility Disorders* / genetics
  • Delayed Diagnosis
  • Genotype
  • Humans
  • Kartagener Syndrome* / diagnosis
  • Kartagener Syndrome* / genetics
  • Mutation / genetics
  • Phenotype