Primary Ciliary Dyskinesia
Indiana University School of Medicine · Indiana University – Purdue University Indianapolis
Abstract
Primary ciliary dyskinesia (PCD) 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 PCD. Of 110 subjects evaluated, PCD was diagnosed in 78 subjects using a combination of compatible clinical features coupled with 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 Pseudomonas aeruginosa (n = 12; 15%) and nontuberculous…
Citation impact
- FWCI
- 17.67
- Percentile
- 100%
- References
- 74
Authors
8- PGPeadar G. NooneCorresponding
Indiana University School of Medicine, Indiana University – Purdue University Indianapolis
- MWMargaret W. Leigh
Indiana University School of Medicine, Indiana University – Purdue University Indianapolis
- ASAruna Sannuti
Indiana University School of Medicine, Indiana University – Purdue University Indianapolis
- SLSusan L. Minnix
Indiana University School of Medicine, Indiana University – Purdue University Indianapolis
- JLJohnny L. Carson
Indiana University School of Medicine, Indiana University – Purdue University Indianapolis
Topics & keywords
- Primary ciliary dyskinesia
- Medicine
- Cilium
- Situs inversus
- Bronchiectasis
- Kartagener Syndrome
- Sinusitis
- Disease
- Good health and well-being