Primary ciliary dyskinesia

Primary ciliary dyskinesia
Other namesImmotile ciliary syndrome or Kartagener syndrome
Normal cilia (A) and cilia representative of Kartagener's syndrome (B)
SpecialtyPulmonology Edit this on Wikidata
SymptomsRespiratory problems, chronic mucus-producing cough and runny nose.[1]
ComplicationsChronic recurrent respiratory infections, including sinusitis, bronchitis, pneumonia, and otitis media.[2]
Usual onsetNeonatal period.[1]
TypesKartagener syndrome.[3]
CausesGenetic mutations.[4]
Diagnostic methodNasal nitric oxide levels, light microscopy of biopsies for ciliary beat pattern and frequency, and electron microscopic examination of dynein arms.[5]
Differential diagnosisNeonatal respiratory distress, laterality defects, chronic cough, nasal congestion and sino-pulmonary disease, Cystic fibrosis, Asthma and Allergic rhinitis, Gastroesophageal reflux disease and aspiration, Immunodeficiency, and Interstitial lung disease.[6]
FrequencyRare.

Primary ciliary dyskinesia (PCD) is a rare, autosomal recessive genetic ciliopathy, that causes defects in the action of cilia lining the upper and lower respiratory tract, sinuses, Eustachian tube, middle ear, fallopian tube, and flagella of sperm cells. The alternative name of "immotile ciliary syndrome" is no longer favored as the cilia do have movement, but are merely inefficient or unsynchronized. When accompanied by situs inversus the condition is known as Kartagener syndrome.[3]

Respiratory epithelial motile cilia, which resemble microscopic "hairs" (although structurally and biologically unrelated to hair), are complex organelles that beat synchronously in the respiratory tract, moving mucus toward the throat. Normally, cilia beat 7 to 22 times per second, and any impairment can result in poor mucociliary clearance, with subsequent upper and lower respiratory infection. Cilia also are involved in other biological processes (such as nitric oxide production), currently the subject of dozens of research efforts.[7]

  1. ^ a b Cite error: The named reference Lucas2020 was invoked but never defined (see the help page).
  2. ^ Cite error: The named reference pmid12162599 was invoked but never defined (see the help page).
  3. ^ a b Cite error: The named reference uniprot was invoked but never defined (see the help page).
  4. ^ Cite error: The named reference pmid15222957 was invoked but never defined (see the help page).
  5. ^ Cite error: The named reference pmid28790179 was invoked but never defined (see the help page).
  6. ^ Cite error: The named reference Leigh Pittman Carson Ferkol 2009 pp. 473–487 was invoked but never defined (see the help page).
  7. ^ "PCDresearch.org". PCDresearch.org. Retrieved 2022-10-24.