Primary ciliary dyskinesia

Primary ciliary dyskinesia
Normal cilia (A) and cilia representative of Kartagener's syndrome (B).
Classification and external resources
Specialty	pulmonology
ICD-10	J98.0*
ICD-9-CM	759.3*
OMIM	244400 242650
DiseasesDB	7112 29887
eMedicine	med/1220 ped/1166
MeSH	D002925
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Primary ciliary dyskinesia (PCD), also immotile ciliary syndrome or Kartagener syndrome, is a rare, ciliopathic, autosomal recessive genetic disorder that causes defects in the action of cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube, as well as in the flagella of sperm cells. The phrase "immotile ciliary syndrome" is no longer favored as the cilia do have movement, but may be inefficient or unsynchronized.

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), which are currently the subject of dozens of research efforts. As the functions of cilia become better understood, the understanding of PCD should be expected to advance.

When accompanied by the combination of situs inversus (reversal of the internal organs), chronic sinusitis, and bronchiectasis, it is known as Kartagener syndrome (only 50% of primary ciliary dyskinesia cases include situs inversus).

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