Primary ciliary dyskinesia

Johanna Raidt; Niki Tomas Loges; Heike Olbrich; Julia Wallmeier; Petra Pennekamp; Heymut Omran

doi:10.1016/j.lpm.2023.104171

Primary ciliary dyskinesia

Presse Med. 2023 Jul 27;52(3):104171. doi: 10.1016/j.lpm.2023.104171. Online ahead of print.

Authors

Johanna Raidt¹, Niki Tomas Loges¹, Heike Olbrich¹, Julia Wallmeier¹, Petra Pennekamp¹, Heymut Omran²

Affiliations

¹ Department of General Pediatrics, University Children's Hospital Muenster, Albert-Schweitzer-Campus 1, 48149 Muenster, Germany.
² Department of General Pediatrics, University Children's Hospital Muenster, Albert-Schweitzer-Campus 1, 48149 Muenster, Germany. Electronic address: heymut.omran@ukmuenster.de.

PMID: 37516247
DOI: 10.1016/j.lpm.2023.104171

Abstract

Background and objectives: Primary 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.

Method: Review 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.

Keywords: Kartagener syndrome; Motile ciliopathy; Primary Ciliary Dyskinesia.