[Expert consensus on diagnosis and treatment of adult primary ciliary dyskinesia (2025 edition)].

Primary ciliary dyskinesia (PCD) is a rare hereditary disorder characterized by defective motile cilia and impaired mucociliary clearance in the respiratory tract. In recent years, significant advances have been made in both clinical and basic research on PCD, especially regarding the identification of newly discovered pathogenic genes. However, early diagnosis and treatment of PCD in China still face considerable challenges. In response, a new expert consensus on the diagnosis and treatment of PCD in China has been developed. This consensus was initiated by the Genetic and Rare Lung Disease Group (Preparatory) of the Chinese Thoracic Society of the Chinese Medical Association and the China Bronchiectasis Clinical Diagnosis and Research Alliance. This consensus is based on extensive opinion collection, literature review, online and offline discussions, and previous expert consensus on PCD in China. The consensus addresses 9 core issues related to PCD, including its clinical presentation, diagnosis, treatment, patient management, and follow-up. Nine recommendations have been formulated to improve the diagnostic and therapeutic approaches to PCD in China.Issue 1: Which high-risk populations should undergo PCD screening?Recommendation 1: It is recommended to screen for PCD in patients with a history of bronchiectasis plus any one of the following: situs inversus; chronic sinusitis or nasal polyps; recurrent or chronic otitis media; infertility/subfertility; consanguinity, or a sibling or first-degree relative with a confirmed PCD diagnosis (1C).Issue 2: What is the value of imaging examinations in the diagnosis and management of PCD?Recommendation 2: For the high-risk PCD populations mentioned above, we recommend performing active imaging investigations-including chest high-resolution computed tomography (HRCT), sinus CT, and cardiac ultrasonography-to aid in the early detection of clinical features indicative of PCD, such as bronchiectasis, sinusitis, and situs inversus. In addition, for patients diagnosed with PCD, we recommend regular follow-up chest HRCT to monitor the progression of pulmonary lesions (1C).Issue 3: What is the value of transmission electron microscopy (TEM) in diagnosing PCD?Recommendation 3: For patients with a high clinical suspicion of PCD, we recommend transmission electron microscopy (TEM) for the assessment of ciliary ultrastructure. TEM serves as a direct diagnostic tool for suspected PCD. A definitive diagnosis of PCD can be made if a class 1 defect is identified (1B). If a class 2 defect is observed, the results should be interpreted in conjunction with other diagnostic findings.Issue 4: What is the value of genetic testing in PCD diagnosis, and which genetic testing strategy should be used?Recommendation 4: For patients with a high clinical suspicion of PCD, we recommend performing genetic testing using whole-exome sequencing (WES) at an early stage. WES serves as a direct diagnostic tool for suspected PCD. A definitive diagnosis can be made when biallelic pathogenic or likely pathogenic variants in known PCD-related genes are identified. During WES data analysis, it is essential to include the assessment of copy number variations (CNVs) (1C).Issue 5: What is the value of nasal nitric oxide (nNO) measurement in diagnosing PCD?Recommendation 5: nNO measurement is recommended as an adjunctive diagnostic test for suspected PCD. Using a threshold of 77 nl/min, patients with nNO values below this threshold should undergo further confirmatory PCD testing (2B).Issue 6: What is the value of high-speed video microscopy analysis (HSVA) in diagnosing PCD?Recommendation 6: In clinical settings with access to HSVA, HSVA is recommended as an adjunctive diagnostic test for suspected PCD. A positive HSVA result warrants further confirmatory testing (2C).Issue 7: What is the value of immunofluorescence (IF) in diagnosing PCD?Recommendation 7: In clinical settings where IF is available, it can be recommended as an adjunctive diagnostic test for suspected PCD. A positive IF result warrants further confirmatory testing (2D).Issue 8: How should PCD patients be followed up?Recommendation 8: Regular annual follow-up is recommended for adult PCD patients. Key follow-up components include assessment of pulmonary, sinus, and otologic symptoms and function. Additional assessments should include evaluation of disease severity, immune status, quality of life, and psychological status. Furthermore, infertility/subfertility assessment and follow-up are recommended for PCD patients of reproductive age (1C).Issue 9: How can genetic counseling assist PCD patient families in reproductive planning and decision-making?Recommendation 9: Providing appropriate genetic counselling to families of PCD patients can help identify carriers and assess the risk of offspring having PCD for individuals of reproductive age, thereby assisting them in making informed reproductive decisions (1D).