Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

Motile ciliopathies

Research output: Contribution to journalReviewpeer-review

  1. Contact dermatitis

    Research output: Contribution to journalReviewpeer-review

  2. Tension-type headache

    Research output: Contribution to journalReviewpeer-review

  3. Gestational diabetes mellitus

    Research output: Contribution to journalReviewpeer-review

  4. Testicular cancer

    Research output: Contribution to journalReviewpeer-review

  5. Invasive candidiasis

    Research output: Contribution to journalReviewpeer-review

  1. Characteristics and impact of exercise-induced laryngeal obstruction: an international perspective

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. National, clinical cohort study of late effects among survivors of acute lymphoblastic leukaemia: the ALL-STAR study protocol

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Autologous fibrin sealant co-delivered with antibiotics is a robust method for topical antibiotic treatment after sinus surgery

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Lung clearance index-triggered intervention in children with cystic fibrosis - A randomised pilot study

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Access to medicines for rare diseases: beating the drum for primary ciliary dyskinesia

    Research output: Contribution to journalJournal articleResearchpeer-review

  • Julia Wallmeier
  • Kim G Nielsen
  • Claudia E Kuehni
  • Jane S Lucas
  • Margaret W Leigh
  • Maimoona A Zariwala
  • Heymut Omran
View graph of relations

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.

Original languageEnglish
JournalNature reviews. Disease primers
Volume6
Issue number1
Pages (from-to)77
ISSN2056-676X
DOIs
Publication statusPublished - 17 Sep 2020

ID: 62065482