Guideline sources The following summarized guidelines for the evaluation of primary ciliary dyskinesia (PCD) are prepared by our editorial team based on guidelines from the American Thoracic Society (ATS 2018) and the European Respiratory Society (ERS 2017). 1 2 Calculator Primary ciliary dyskinesia rule P Guidelines 1. Screening and diagnosis Indications for testing: Obtain testing for PCD in patients having several of the following features: persistent wet cough situs anomalies congenital cardiac defects persistent rhinitis chronic middle ear disease with or without hearing loss history of neonatal upper and lower respiratory symptoms or neonatal intensive care admittance in term infants. A Sh 3 https://web.pathway.md/diseases/recmxMKrAzwvLDa6U 1/4 6/29/23, 11:29 PM Primary ciliary dyskinesia Pathway Show 3 more 2. Diagnostic investigations Nasal nitric oxide: As per ATS 2018 guidelines, consider obtaining nasal nitric oxide testing over transmission electron microscopy and/or genetic testing for the diagnosis of PCD in cooperative patients 5 years of age with a clinical phenotype consistent with PCD and with cystic fibrosis excluded. C As per ERS 2017 guidelines, obtain nasal nitric oxide measurement as part of the diagnostic work-up in > 6 years old pediatric patients and adult patients with suspected PCD, preferably using a chemiluminescence analyzer with a velum closure technique. A Show 2 more High-speed videomicroscopy analysis: As per ATS 2018 guidelines, avoid obtaining ciliary beat pattern analysis by high-speed videomicroscopy as a replacement diagnostic test in patients with a high probability of PCD. D Show 2 more As per ERS 2017 guidelines, obtain high-speed videomicroscopy analysis including ciliary beat frequency and beat pattern analysis as part of the diagnostic work-up in patients with suspected PCD. B Show 2 more Transmission electron microscopy: obtain ciliary ultrastructure analysis by transmission electron microscopy as part of the diagnostic work-up in patients with suspected PCD. A Show 2 more Immunofluorescence: Recognize that immunofluorescence: is able to confirm pathogenesis of mutations (such as missense mutations in genes encoding radial spoke proteins) can detect PCD in some cases with normal ultrastructure or subtle ultrastructural defects can help establish the diagnosis of PCD in outer and inner dynein arms, tubular disorganisation (CCDC39/CCDC40 mutations), central pair (genes encoding radial spoke proteins) and nexin link defects. E Genetic testing: As per ATS 2018 guidelines, consider obtaining an extended genetic panel over transmission electron microscopy ciliary testing and/or standard genetic panel (< 12 genes) testing in patients presenting with a strong clinical phenotype for PCD. C As per ERS 2017 guidelines, consider obtaining genetic testing to confirm the diagnosis if patients with PCD diagnosed by other means (such as high-speed videomicroscopy analysis, transmission electron microscopy, immunofluorescence) or with high clinical suspicion for PCD and no availability of other investigations, such as high-speed videomicroscopy analysis, transmission electron microscopy, immunofluorescence. Recognize that a negative genetic test does not exclude PCD. E Show 6 more https://web.pathway.md/diseases/recmxMKrAzwvLDa6U 2/4 6/29/23, 11:29 PM Primary ciliary dyskinesia Pathway Clinical findings Symptoms Past medical history Chest pain Biliary atresia Cough Bronchiectasis Facial pain Chronic suppurative otitis media Fatigue Infertility Fever Lower respiratory tract infection Hemoptysis Otitis media with effusion Nasal congestion Polycystic kidney disease Reduced sense of smell Recurrent sinusitis Rhinorrhea Situs ambiguus Shortness of breath Situs inversus Sputum production Vital signs Past obstetric history Tachypnea Ectopic pregnancy Head and neck exam Ocular exam Nasal polyps Retinitis pigmentosa Musculoskeletal exam Respiratory exam Scoliosis Respiratory distress Lab findings Wheezing blood oxygen Integument exam Diagnostic procedures Digital clubbing nasal nitric oxide Imaging findings Air trapping Atelectasis Bronchial wall thickening Ground-glass opacities Hydrocephalus Mucoid impaction References 1. Lucas JS, Barbato A, Collins SA et al. European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia. Eur Respir J. 2017 Jan 4;49 1 . pii: 1601090. Open 2. Adam J Shapiro, Stephanie D Davis, Deepika Polineni et al. Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline. Am J Respir Crit Care Med. 2018 Jun 15;197 12):e24-e39. Open https://web.pathway.md/diseases/recmxMKrAzwvLDa6U 3/4 6/29/23, 11:29 PM Primary ciliary dyskinesia Pathway 3. Laura Behan, Borislav D Dimitrov, Claudia E Kuehni et al. PICADAR a diagnostic predictive tool for primary ciliary dyskinesia. Eur Respir J. 2016 Apr;47 4 1103 12. Open https://web.pathway.md/diseases/recmxMKrAzwvLDa6U 4/4