Background
Why is it important to diagnose PCD in adults with bronchiectasis?
When should PCD be investigated in adults with bronchiectasis?
How to diagnose PCD in adults with bronchiectasis?
Clinical presentation
PICADAR and modified PICADAR
Nasal nitric oxide (nNO)
High-speed video analysis (HSVA)
Transmission electron microscopy (TEM)
Immunofluorescence
Genetics
Diagnostic testing guidelines
ERS 2017 [36] | North American PCD Foundation 2016 [17] | |
---|---|---|
Structure | Evidence-based guidelines | Consensus statement |
Patients included | Infants and adults | Infants and adults |
Diagnostic criteria distinguished by age | Not done | Newborns (0–1 month) Children (1 month – 5 years) Children 5–18 years and adults |
Diagnostic criteria | A diagnostic algorithm is proposed | Two major clinical criteria PLUS at least one diagnostic test |
Diagnostic outcome | PCD positive, PCD highly likely and PCD extremely unlikely | PCD positive and PCD negative |
nNO | No consensus on appropriate thresholds | < 77 nL/min on 2 occasions, > 2 months apart, with CF excluded |
HSVA | Several European centres employ HSVA due to high expertise | No American centres can reliably perform HSVA due to lack of expertise |
Cell culture | Recommended to improve accuracy of HSVA and TEM to rule out a false positive diagnosis or support a highly likely diagnosis | Not mentioned |
IF | Not included in the diagnostic algorithm due to lack of studies at time of guideline | Not included in the diagnostic criteria due to lack of studies at time of guideline |
TEM | Can be used to confirm a diagnosis but advise against TEM in isolation to exclude PCD because some patients with PCD have apparently normal ultrastructure | Can be used to confirm a diagnosis but advise against TEM in isolation to exclude PCD because some patients with PCD have apparently normal ultrastructure |
Genotyping | Can be used to confirm a diagnosis but cannot be used to exclude a diagnosis because evidence on sensitivity and specificity lacks | Can be used to confirm a diagnosis but cannot be used to exclude a diagnosis because evidence on sensitivity and specificity lacks |
Prevalence of PCD in adults with bronchiectasis
Paper | Type and site of study | Patients involved | Patients screened for PCD | PCD diagnosed | Screening tests | Diagnosis tests | Features of PCD population |
---|---|---|---|---|---|---|---|
Amorim, 2015 [77] | Monocentric, Retrospective, Cohort study Portugal | 202 | 5 with history of infertility | 1 (0.5%) | Semen analysis | Not mentioned | Not mentioned |
Kadowaki, 2015 [78] | Monocentric, Retrospective, Cohort study Japan | 147 | 147 | 2 (1%) | Kartagener’s features | Kartagener’s features | Not mentioned |
Verra, 1991 [79] | Monocentric, Prospective, Cohort study France | 53 | 38 with diffuse bronchiectasis | 5 (13%) | Chest HRCT | TEM | Prevalence in North African patients 36% Prevalence in European patients 4% |
Pasteur, 2000 [80] | Monocentric, Prospective, Cohort study United Kingdom | 150 | 150 | 1 (0.6%) | Light microscopy with CBF | TEM | Not mentioned |
King, 2006 [81] | Monocentric, Prospective, Cross-sectional Australia | 103 | 103 | 1 (1%) | Unexplained infertility | Ciliary function | Not mentioned |
Shoemark, 2007 [11] | Monocentric, Prospective, Cohort study United Kingdom | 240 | 240 | 17 (10%) 12 PCD positive 5 PCD likely | Saccharin test nNO | Light microscopy TEM | Age 36 ± 13 |
Anwar, 2013 [82] | Two centres Prospective, Cohort study United Kingdom | 189 | 189 | 2 (1%) | History of upper and lower respiratory symptoms and/or infertility | Referral to specialized PCD centre | Not mentioned |
Qian, 2015 [83] | Multi-centre, Prospective, Cohort study China (Chinese Han ethnicity) | 476 | 71 with history of upper and lower respiratory symptoms or Kartagener’s features | 4 (0.9%) | Saccharin test | TEM | Not mentioned |
Lonni, 2015 [24] | Multicentre, International, Prospective, Cohort study Italy United Kingdom Spain Greece Belgium Ireland | 1258 | Not mentioned | 21 (1.7%) | History of upper and lower respiratory symptoms Saccharin test nNO | Referral to specialized PCD centre | Younger than 50 years Non-smokers Mild disease 11 (52.4%) Moderate 8 (38.1%) Severe 2 (9.5%) |
Guan, 2015 [84] | Multicentre, Prospective, Cohort study China | 148 | 148 | 2 (1.4%) | Saccharin test | Kartagener’s features | Younger than other bronchiectasis patients |
Dimakou, 2016 [85] | Monocentric, Prospective, Cohort study Greece | 277 | 32 with history of respiratory distress syndrome after birth, of upper and lower respiratory symptoms since childhood and/or infertility | 12 (4%) | Saccharin test nNO | TEM | Not mentioned |
Olveira, 2017 [86] | Multi-centre, Prospective, Cross-sectional Spain | 2047 | Not mentioned | 60 (2.9%) | Clinical features Saccharin test Seroalbumin NO (not specified if FENO or nNO) | TEM | Age 42.9 ± 8.8 Age at diagnosis 22.1 ± 18.1 Male 29 (48.3%) Smokers 14 (23.3%) BMI 23.8 ± 6.1 FEV1 (%) 67.1 ± 24.2 Chronic Infection Pa 27 (45%) Inhaled ATB 21 (39.6%) Bilateral bronchiectasis 29 (48.3%) |