title: Primary Ciliary Dyskinesia.
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.
authors: Department of Medicine, Marsico Lung Institute/UNC CF Research Center, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA. Electronic address: michael_knowles@med.unc.edu.
authors: Michael R
authors: MR
authors: Knowles
authors: Department of Pathology and Laboratory Medicine, Marsico Lung Institute/UNC CF Research Center, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
authors: Maimoona
authors: M
authors: Zariwala
authors: Department of Pediatrics, Marsico Lung Institute/UNC CF Research Center, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
authors: Margaret
authors: M
authors: Leigh
mesh_terms: D000280:Administration, Inhalation; D000281:Administration, Intranasal; D000305:Adrenal Cortex Hormones; D000900:Anti-Bacterial Agents / Q000627:therapeutic use; D001944:Breath Tests; D002908:Chronic Disease; D002923:Cilia; D003371:Cough / Q000209:etiology* / Q000628:therapy; D004724:Endoscopy; D005820:Genetic Testing; D059446:Heterotaxy Syndrome / Q000150:complications; D006801:Humans; D007619:Kartagener Syndrome / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D008876:Middle Ear Ventilation; D055556:Nasal Lavage; D009569:Nitric Oxide / Q000378:metabolism; D010033:Otitis Media / Q000209:etiology* / Q000628:therapy; D010641:Phenotype; D012127:Respiratory Distress Syndrome, Newborn / Q000209:etiology*; D012462:Saline Solution, Hypertonic / Q000627:therapeutic use; D012852:Sinusitis / Q000209:etiology* / Q000628:therapy; D012857:Situs Inversus / Q000150:complications
chemical_list: D000305:Adrenal Cortex Hormones; D000900:Anti-Bacterial Agents; D012462:Saline Solution, Hypertonic; D009569:Nitric Oxide
keywords: Genetic testing; Kartagener syndrome; Nasal nitric oxide; Primary ciliary dyskinesia