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Published ahead of print on December 4, 2003, doi:10.1164/rccm.200303-365OC

Am. J. Respir. Crit. Care Med., Volume 169, Number 4, February 2004, 459-467

A more recent version of this article appeared on February 15, 2004
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Submitted on March 17, 2003
Accepted on November 24, 2003

Primary ciliary dyskinesia: Diagnostic and phenotypic features

Peadar G Noone1*, Margaret W Leigh2, Aruna Sannuti2, Susan L Minnix1, Johnny L Carson2, Milan Hazucha1, Maimoona A Zariwala1, and Michael R Knowles1

1 Medicine, University of North Carolina, Chapel Hill, NC, USA, 2 Pediatrics, University of North Carolina, Chapel Hill, NC, USA

* To whom correspondence should be addressed. E-mail: pnoone{at}med.unc.edu.

Primary ciliary dyskinesia is a genetic disease characterized by abnormalities in ciliary structure/ function. We hypothesized that the major clinical and biologic phenotypic markers of the disease could be evaluated by studying a cohort of subjects suspected of having primary ciliary dyskinesia. Of 110 subjects evaluated, 78 were diagnosed with primary ciliary dyskinesia using a combination of compatible clinical features, coupled to tests of ciliary ultrastructure and function. Chronic rhinitis/sinusitis (n=78; 100%), recurrent otitis media (n=74; 95%), neonatal respiratory symptoms (n=57; 73%) and situs inversus (n=43; 55%) are strong phenotypic markers of the disease. Mucoid P aeruginosa (n=12; 15%) and non-tuberculous mycobacteria (n=8; 10%), were present in older (> 30yr.) patients with primary ciliary dyskinesia. All subjects had defects in ciliary structure, 66% in the outer dynein arm. Nasal nitric oxide production was very low in primary ciliary dyskinesia (nl/min; 19±17 vs. 376±124 in normal controls). Rigorous clinical and ciliary phenotyping, and measures of nasal nitric oxide, are useful for the diagnosis of primary ciliary dyskinesia. An increased awareness of the clinical presentation and diagnostic criteria for primary ciliary dyskinesia will help lead to better diagnosis and care for this orphan disease.
Key words: Primary ciliary dyskinesia, ciliary ultrastructure, nitric oxide, situs inversus, pseudomonas aeruginosa.




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