Primary Ciliary Dyskinesia: An Update on New Diagnostic Modalities and Review of the Literature.
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SUBMITTER: Popatia R
PROVIDER: S-EPMC4062113 | biostudies-literature | 2014 Jun
REPOSITORIES: biostudies-literature
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Primary Ciliary Dyskinesia: An Update on New Diagnostic Modalities and Review of the Literature.
Popatia Rizwana R Haver Kenan K Casey Alicia A
Pediatric allergy, immunology, and pulmonology 20140601 2
Primary ciliary dyskinesia (PCD) is a genetic condition affecting approximately 1 in 15,000-20,000 individuals, and the majority of cases exhibit an autosomal recessive inheritance pattern. However, genetic heterogenicity is seen in PCD and reflects the complexity of ciliary structure and biogenesis. There have been many recent advances in the diagnosis and management of PCD in the last few years, including advanced genetic sequencing, nasal nitric oxide assay, and ciliary motility tests. This a ...[more]
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