Primary ciliary dyskinesia

Primary ciliary dyskinesia
Other names	Immotile ciliary syndrome or Kartagener syndrome
Normal cilia (A) and cilia representative of Kartagener's syndrome (B)
Specialty	Pulmonology
Symptoms	Respiratory problems, chronic mucus-producing cough and runny nose.[1]
Complications	Chronic recurrent respiratory infections, including sinusitis, bronchitis, pneumonia, and otitis media.[2]
Usual onset	Neonatal period.[1]
Types	Kartagener syndrome.[3]
Causes	Genetic mutations.[4]
Diagnostic method	Nasal nitric oxide levels, light microscopy of biopsies for ciliary beat pattern and frequency, and electron microscopic examination of dynein arms.[5]
Differential diagnosis	Neonatal 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]
Frequency	Rare.

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]