| Literature DB >> 27514592 |
Michael R Knowles1, Maimoona Zariwala2, Margaret Leigh3.
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.Entities:
Keywords: Genetic testing; Kartagener syndrome; Nasal nitric oxide; Primary ciliary dyskinesia
Mesh:
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Year: 2016 PMID: 27514592 PMCID: PMC4988337 DOI: 10.1016/j.ccm.2016.04.008
Source DB: PubMed Journal: Clin Chest Med ISSN: 0272-5231 Impact factor: 2.878