Journal article
Motile ciliopathies.
- Wallmeier J Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany.
- Nielsen KG Danish PCD Centre, Danish Paediatric Pulmonary Service, Department of Paediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
- Kuehni CE Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.
- Lucas JS Primary Ciliary Dyskinesia Centre, NIHR Biomedical Research Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
- Leigh MW Department of Pediatrics, Marsico Lung Institute, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
- Zariwala MA Department of Pathology and Laboratory Medicine, Marsico Lung Institute, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
- Omran H Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany. Heymut.Omran@ukmuenster.de.
- 2020-09-18
Published in:
- Nature reviews. Disease primers. - 2020
English
Motile cilia are highly complex hair-like organelles of epithelial cells lining the surface of various organ systems. Genetic mutations (usually with autosomal recessive inheritance) that impair ciliary beating cause a variety of motile ciliopathies, a heterogeneous group of rare disorders. The pathogenetic mechanisms, clinical symptoms and severity of the disease depend on the specific affected genes and the tissues in which they are expressed. Defects in the ependymal cilia can result in hydrocephalus, defects in the cilia in the fallopian tubes or in sperm flagella can cause female and male subfertility, respectively, and malfunctional motile monocilia of the left-right organizer during early embryonic development can lead to laterality defects such as situs inversus and heterotaxy. If mucociliary clearance in the respiratory epithelium is severely impaired, the disorder is referred to as primary ciliary dyskinesia, the most common motile ciliopathy. No single test can confirm a diagnosis of motile ciliopathy, which is based on a combination of tests including nasal nitric oxide measurement, transmission electron microscopy, immunofluorescence and genetic analyses, and high-speed video microscopy. With the exception of azithromycin, there is no evidence-based treatment for primary ciliary dyskinesia; therapies aim at relieving symptoms and reducing the effects of reduced ciliary motility.
- Language
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- English
- Open access status
- closed
- Identifiers
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- DOI 10.1038/s41572-020-0209-6
- PMID 32943623
- Persistent URL
- https://sonar.ch/global/documents/284648
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