• Johanna Raidt, Niki Tomas Loges, Heike Olbrich, Julia Wallmeier, Petra Pennekamp, and Heymut Omran.
• Department of General Pediatrics, University Children's Hospital Muenster, Albert-Schweitzer-Campus 1, 48149 Muenster, Germany.
• Presse Med. 2023 Sep 1; 52 (3): 104171104171.

Background And ObjectivesPrimary ciliary dyskinesia (PCD, ORPHA:244) is a group of rare genetic disorders characterized by dysfunction of motile cilia. It is phenotypically and genetically heterogeneous, with more than 50 genes involved. Thanks to genetic, clinical, and functional characterization, immense progress has been made in the understanding and diagnosis of PCD. Nevertheless, it is underdiagnosed due to the heterogeneous phenotype and complexity of diagnosis. This review aims to help clinicians navigate this heterogeneous group of diseases. Here, we describe the broad spectrum of phenotypes associated with PCD and address pitfalls and difficult-to-interpret findings to avoid misinterpretation.MethodReview of literature CONCLUSION: PCD diagnosis is complex and requires integration of history, clinical picture, imaging, functional and structural analysis of motile cilia and, if available, genetic analysis to make a definitive diagnosis. It is critical that we continue to expand our knowledge of this group of rare disorders to improve the identification of PCD patients and to develop evidence-based therapeutic approaches.Copyright © 2023 Elsevier Masson SAS. All rights reserved.

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