.launch-header{position:relative!important}.launch-desktop-nav button,.launch-mobile-toggle,.experience-region-trigger{display:none!important}.experience-noscript-nav{display:flex;flex-wrap:wrap;justify-content:center;gap:16px;padding:16px;background:#f8fafc;font-size:13px}.experience-noscript-nav a{min-height:44px;display:inline-flex;align-items:center}Prognia Ward Suture Osler Medical library Learning resources Pricing Crowdfunding Founders Wall English Nederlands Español Français Deutsch

Loading your page…

European Respiratory/American ThoracicPediatric Pulmonology2026intermediate

The Diagnosis of Primary Ciliary Dyskinesia: Putting The European Respiratory/American Thoracic Guideline Into Practice.

Published by European Respiratory Society / American Thoracic Society · GRADE

32References

Read Full Guideline (Free)

Summary

AI-generated

Primary ciliary dyskinesia (PCD) is a rare inherited disease characterized by progressive lung disease, chronic rhinosinusitis, repeated middle ear infections, laterality defects, and reduced fertility. Diagnosis is often delayed due to symptom heterogeneity, necessitating the use of multiple diagnostic tests. The joint ERS/ATS guidelines provide a unified, evidence-based approach to standardize PCD diagnostics.

Primary Ciliary DyskinesiaPCDERSATSPediatric PulmonologyGenetic testingTEMnNO

Key Takeaways

1
Diagnosis of PCD requires a combination of tests (Genetics, TEM, nNO, HSVM, IF) as no single test has 100% specificity and sensitivity.
2
Patients at high risk based on combined clinical symptoms or standardized tools (e.g., PICADAR, ATS criteria) should be referred to specialized diagnostic centers.
3
International collaboration and expert networks (e.g., BEAT-PCD, ERN-LUNG) are vital for improving diagnosis, especially in resource-limited settings.
4
Genetic confirmation is increasingly important to identify patients eligible for future curative therapies, such as mRNA correction and gene editing.

What's New in This Version

This joint ERS/ATS guideline unifies the previously separate and outdated 2017 ERS and 2018 ATS guidelines. It standardizes diagnostic approaches globally and incorporates advances in cilia genetics and novel diagnostic techniques.

Key Recommendations

1.11.1 | Nasal NO (nNO)

rec_1
Measurement of nNO using the velum closure technique is recommended to support a diagnosis of PCD in concordance with other tests.
strongEvidence: moderateDiagnosis
rec_2
Measurement of nNO using tidal breathing may be used when velum closure is not possible, though it has reduced sensitivity and specificity and risks non-PCD patients being misclassified.
conditionalEvidence: very lowDiagnosis

1.12 | High Speed Video Microscopy Analysis (HSVM)

rec_3
HSVM is advised to be used in combination with other tests and not as a stand-alone investigation.
strongEvidence: very lowDiagnosis

1.13 | Immunofluorescence (IF)

rec_4
The use of immunofluorescence (IF) on nasal brushing samples is recommended to provide timely and accurate diagnostic results, particularly for resolving cases where genetic results are inconclusive.
strongEvidence: highDiagnosis

Scope & Objectives

Clinical Topic

Primary Ciliary Dyskinesia

Objectives

To assist health professionals in the pathway of diagnosis in a patient with PCD from the initial clinical presentation to which tests to perform.

Target Patient Population

Patients with suspected primary ciliary dyskinesia

Diagnostic Criteria

A confirmed diagnosis requires identifying biallelic pathogenic variants in a known PCD-associated gene or Class 1 ultrastructural defects on TEM. Additional tests such as nNO, HSVM, and IF are strongly recommended to support a diagnosis when genetics or TEM are inconclusive.

Target Providers

PediatriciansPulmonologistsHealth professionals managing patients with wet cough/bronchiectasis

Patient Criteria & Setting

Therapeutic Area

Respiratory Medicine

Guideline Scope

DiagnosisScreening

Care Settings

Specialised diagnostic centres

Special Populations

NeonatesChildrenPatients in resource limited settings

Evidence Grading

System: GRADE

Authors & Contributors

Katharine HarmanAmjad HoraniAmelia Shoemark

Guideline Features

Based on systematic reviewMultidisciplinary

Learning Context

Difficulty

intermediate

Learning Paths

Diagnostic AlgorithmsPrimary Ciliary DyskinesiaPediatric PulmonologyClinical GuidelinesGenetic TestingCiliary Function

Full Text (Free Access)

European Respiratory Society / American Thoracic Society

AI Podcast

Deep-dive audio (~10 min)

Study Guide

Structured study document

Infographic

Visual overview of key points

Slide Deck

Presentation-ready slides

The Diagnosis of Primary Ciliary Dyskinesia: Putting The European Respiratory/Am — Blog

Read the full blog article

Guideline Info

SocietyEuropean Respiratory/American Thoracic

Full nameEuropean Respiratory Society / American Thoracic Society

SpecialtyPediatric Pulmonology

Year2026

Evidence systemGRADE

RegionInternational

LanguageEnglish

DOI10.1002/ppul.71577

Key Figures

References32

Clinical Areas

Pediatric PulmonologyPulmonologyPediatrics

European Respiratory/American Thoracic

International