Journal
APPLICATION OF CLINICAL GENETICS
Volume 10, Issue -, Pages 67-74Publisher
DOVE MEDICAL PRESS LTD
DOI: 10.2147/TACG.S127129
Keywords
genetic testing; Kartagener's syndrome; primary ciliary dyskinesia
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Funding
- NHLBI NIH HHS [U54 HL096458] Funding Source: Medline
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Primary ciliary dyskinesia is a genetically heterogeneous disorder of motile cilia that is predominantly inherited in an autosomal-recessive fashion. It is associated with abnormal ciliary structure and/or function leading to chronic upper and lower respiratory tract infections, male infertility, and situs inversus. The estimated prevalence of primary ciliary dyskinesia is approximately one in 10,000-40,000 live births. Diagnosis depends on clinical presentation, nasal nitric oxide, high-speed video-microscopy analysis, transmission electron microscopy, genetic testing, and immunofluorescence. Here, we review its clinical features, diagnostic methods, molecular basis, and available therapies.
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