Forskning
Udskriv Udskriv
Switch language
Rigshospitalet - en del af Københavns Universitetshospital
Udgivet

Motile ciliopathies

Publikation: Bidrag til tidsskriftReviewForskningpeer review

DOI

  1. Tension-type headache

    Publikation: Bidrag til tidsskriftReviewForskningpeer review

  2. Gestational diabetes mellitus

    Publikation: Bidrag til tidsskriftReviewForskningpeer review

  3. Testicular cancer

    Publikation: Bidrag til tidsskriftReviewForskningpeer review

  4. Invasive candidiasis

    Publikation: Bidrag til tidsskriftReviewForskningpeer review

  5. Antiphospholipid syndrome

    Publikation: Bidrag til tidsskriftReviewForskningpeer review

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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  • Julia Wallmeier
  • Kim G Nielsen
  • Claudia E Kuehni
  • Jane S Lucas
  • Margaret W Leigh
  • Maimoona A Zariwala
  • Heymut Omran
Vis graf over relationer

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.

OriginalsprogEngelsk
TidsskriftNature reviews. Disease primers
Vol/bind6
Udgave nummer1
Sider (fra-til)77
ISSN2056-676X
DOI
StatusUdgivet - 17 sep. 2020

ID: 62065482