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Background <p>Primary ciliary dyskinesia (PCD) is a rare but underdiagnosed genetic cause of adult bronchiectasis, with current predictive tools (e.g., PICADAR, NA-CDCF) primarily validated in children and lacking adult-specific predictors (e.g., subfertility). This study aimed to develop and validate a practical tool (PCDSOS) for PCD screening in adult bronchiectasis.</p> Methods <p>Derivation group (<i>n</i> = 287) from Peking Union Medical College Hospital (2013–2025) and validation group (<i>n</i> = 107) from The Second Xiangya Hospital (2016–2024) were included. All patients completed ≥ 1 PCD diagnostic test (nasal nitric oxide, whole-exome sequencing, transmission electron microscopy, or high-speed video microscopy analysis). Logistic regression was used to develop PCDSOS, with performance assessed by AUC, calibration curve, and decision curve analysis.</p> Results <p>Existing tools showed reduced accuracy in adults (AUC: 0.76–0.85 vs. 0.84–0.98 in original studies). PCDSOS included 6 predictors: pulmonary atelectasis/lobectomy in middle lobe/lingula (P, 2 points), neonatal chest symptoms (C, 2 points), organ laterality defects (D, 5 points), chronic sinusitis (S, 2 points), chronic otitis media/hearing loss from childhood (O, 1 point), and subfertility (S, 1 point). At cutoff = 3, PCDSOS had sensitivity 0.86, specificity 0.76 (derivation cohort, AUC = 0.90) and sensitivity 0.90, specificity 0.67 (validation cohort, AUC = 0.92). A free web-based version of PCDSOS for automated scoring is available to facilitate clinical application.</p> Conclusions <p>PCDSOS outperforms existing tools in adult bronchiectasis, providing a cost-effective screening strategy to identify patients requiring further PCD diagnostic testing—critical for preventing irreversible lung damage and guiding genetic counseling.</p>

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PCDSOS: a novel clinical predictive tool for screening primary ciliary dyskinesia in adult bronchiectasis patients—a multicenter derivation and external validation study

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年3月10日

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  • Wangji Zhou,
  • Lin Wang,
  • Qiaoling Chen,
  • Yaqi Wang,
  • Haiyu Pang,
  • Anhui Guo,
  • Aohua Wu,
  • Xueqi Liu,
  • Jinrong Dai,
  • Shuzhen Meng,
  • Rongchun Wang,
  • Danhui Yang,
  • Yaping Liu,
  • Weiguo Zhu,
  • Kai-Feng Xu,
  • Xue Zhang,
  • Hong Luo,
  • Xinlun Tian

摘要

Background

Primary ciliary dyskinesia (PCD) is a rare but underdiagnosed genetic cause of adult bronchiectasis, with current predictive tools (e.g., PICADAR, NA-CDCF) primarily validated in children and lacking adult-specific predictors (e.g., subfertility). This study aimed to develop and validate a practical tool (PCDSOS) for PCD screening in adult bronchiectasis.

Methods

Derivation group (n = 287) from Peking Union Medical College Hospital (2013–2025) and validation group (n = 107) from The Second Xiangya Hospital (2016–2024) were included. All patients completed ≥ 1 PCD diagnostic test (nasal nitric oxide, whole-exome sequencing, transmission electron microscopy, or high-speed video microscopy analysis). Logistic regression was used to develop PCDSOS, with performance assessed by AUC, calibration curve, and decision curve analysis.

Results

Existing tools showed reduced accuracy in adults (AUC: 0.76–0.85 vs. 0.84–0.98 in original studies). PCDSOS included 6 predictors: pulmonary atelectasis/lobectomy in middle lobe/lingula (P, 2 points), neonatal chest symptoms (C, 2 points), organ laterality defects (D, 5 points), chronic sinusitis (S, 2 points), chronic otitis media/hearing loss from childhood (O, 1 point), and subfertility (S, 1 point). At cutoff = 3, PCDSOS had sensitivity 0.86, specificity 0.76 (derivation cohort, AUC = 0.90) and sensitivity 0.90, specificity 0.67 (validation cohort, AUC = 0.92). A free web-based version of PCDSOS for automated scoring is available to facilitate clinical application.

Conclusions

PCDSOS outperforms existing tools in adult bronchiectasis, providing a cost-effective screening strategy to identify patients requiring further PCD diagnostic testing—critical for preventing irreversible lung damage and guiding genetic counseling.