Primary Ciliary Dyskinesia

Clin Chest Med. 2016 Sep;37(3):449-61. doi: 10.1016/j.ccm.2016.04.008. Epub 2016 Jun 30.

Abstract

Primary ciliary dyskinesia (PCD) is a recessive genetically heterogeneous disorder of motile cilia with chronic otosinopulmonary disease and organ laterality defects in ∼50% of cases. The prevalence of PCD is difficult to determine. Recent diagnostic advances through measurement of nasal nitric oxide and genetic testing has allowed rigorous diagnoses and determination of a robust clinical phenotype, which includes neonatal respiratory distress, daily nasal congestion, and wet cough starting early in life, along with organ laterality defects. There is early onset of lung disease in PCD with abnormal airflow mechanics and radiographic abnormalities detected in infancy and early childhood.

Keywords: Genetic testing; Kartagener syndrome; Nasal nitric oxide; Primary ciliary dyskinesia.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural
  • Review

MeSH terms

  • Administration, Inhalation
  • Administration, Intranasal
  • Adrenal Cortex Hormones
  • Anti-Bacterial Agents / therapeutic use
  • Breath Tests
  • Chronic Disease
  • Cilia
  • Cough / etiology*
  • Cough / therapy
  • Endoscopy
  • Genetic Testing
  • Heterotaxy Syndrome / complications
  • Humans
  • Kartagener Syndrome / complications*
  • Kartagener Syndrome / diagnosis
  • Kartagener Syndrome / therapy
  • Middle Ear Ventilation
  • Nasal Lavage
  • Nitric Oxide / metabolism
  • Otitis Media / etiology*
  • Otitis Media / therapy
  • Phenotype
  • Respiratory Distress Syndrome, Newborn / etiology*
  • Saline Solution, Hypertonic / therapeutic use
  • Sinusitis / etiology*
  • Sinusitis / therapy
  • Situs Inversus / complications

Substances

  • Adrenal Cortex Hormones
  • Anti-Bacterial Agents
  • Saline Solution, Hypertonic
  • Nitric Oxide