Primary Ciliary Dyskinesia: Multimedia

References

1. Kartagener M. Zur pathogene der bronkiectasein:bronkiectasein bei situs viscerum inversus. Beitr Klin Tuberk. 1933;82:489.

2. Kartagner M. Zur pathogenese der bronkiectasein. I Mittelung: Bronkiectasein bei situs viscerum invesus. Beitr Klin Tuberk. 1933;83:498-501.

3. Afzelius BA. A human syndrome caused by immotile cilia. Science. Jul 23 1976;193(4250):317-9. [Medline].

4. Carson JL, Collier AM, Hu SS. Acquired ciliary defects in nasal epithelium of children with acute viral upper respiratory infections. N Engl J Med. Feb 21 1985;312(8):463-8. [Medline].

5. Pedersen M. Ciliary activity and pollution. Lung. 1990;168 Suppl:368-76. [Medline].

6. Sturgess JM, Chao J, Turner JA. Transposition of ciliary microtubules: another cause of impaired ciliary motility. N Engl J Med. Aug 7 1980;303(6):318-22. [Medline].

7. Chilvers MA, Rutman A, O'Callaghan C. Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia. J Allergy Clin Immunol. Sep 2003;112(3):518-24. [Medline].

8. Afzelius BA, Eliasson R. Male and female infertility problems in the immotile-cilia syndrome. Eur J Respir Dis Suppl. 1983;127:144-7. [Medline].

9. Pennarun G, Escudier E, Chapelin C, et al. Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia. Am J Hum Genet. Dec 1999;65(6):1508-19. [Medline].

10. Guichard C, Harricane MC, Lafitte JJ, et al. Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome). Am J Hum Genet. Apr 2001;68(4):1030-5. [Medline].

11. Hornef N, Olbrich H, Horvath J, et al. DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. Am J Respir Crit Care Med. Jul 15 2006;174(2):120-6. [Medline].

12. Bush A, Ferkol T. Movement: the emerging genetics of primary ciliary dyskinesia. Am J Respir Crit Care Med. Jul 15 2006;174(2):109-10. [Medline].

13. Santamaria F, Montella S, Tiddens HA, et al. Structural and functional lung disease in primary ciliary dyskinesia. Chest. Aug 2008;134(2):351-7. [Medline].

14. Corbelli R, Bringolf-Isler B, Amacher A, Sasse B, Spycher M, Hammer J. Nasal nitric oxide measurements to screen children for primary ciliary dyskinesia. Chest. Oct 2004;126(4):1054-9. [Medline].

15. Karadag B, James AJ, Gultekin E, Wilson NM, Bush A. Nasal and lower airway level of nitric oxide in children with primary ciliary dyskinesia. Eur Respir J. Jun 1999;13(6):1402-5. [Medline].

16. Noone PG, Leigh MW, Sannuti A, et al. Primary ciliary dyskinesia: diagnostic and phenotypic features. Am J Respir Crit Care Med. Feb 15 2004;169(4):459-67. [Medline].

Further Reading

Keywords

primary ciliary dyskinesia, PCD, immotile cilia syndrome, ICS, cilia, dyskinetic cilia syndrome, immotile cilia syndrome, Kartagener syndrome, situs inversus totalis, respiratory infections, sinusitis, otitis media, male infertility, chronic sinusitis, bronchiectasis, ciliary dyskinesia syndrome, CDS, male infertility, rhinitis, pneumonia, dextrocardia, rhinorrhea, anosmia, halitosis, hydrocephalus, atelectasis, nasal mucosal congestion, mucopurulent nasal discharge, nasal obstruction, nasal polyps

Contributor Information and Disclosures

Author

Girish D Sharma, MD, Associate Professor, Department of Pediatrics, Rush University Medical Center, Rush Children's Hospital; Director of Pediatric Pulmonary Section and Rush Cystic Fibrosis Center
Girish D Sharma, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Chest Physicians, American Thoracic Society, and Royal College of Physicians of Ireland
Disclosure: Nothing to disclose.

Medical Editor

Susanna A McColley, MD, Director of Cystic Fibrosis Center; Head, Division of Pulmonary Medicine; Associate Professor, Department of Pediatrics, Children's Memorial Medical Center of Chicago, Northwestern University
Susanna A McColley, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Chest Physicians, American Sleep Disorders Association, and American Thoracic Society
Disclosure: Genentech Honoraria Speaking and teaching; Genentech Consulting fee Consulting; Novartis Consulting fee Consulting; Altus Consulting fee Consulting; Axcan Scandi Consulting fee Consulting; Boston Scientific Consulting fee Consulting

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from broker recommendation; Avanir Pharma Stock Investment from broker recommendation

Managing Editor

Heidi Connolly, MD, Associate Professor of Pediatrics and Psychiatry, University of Rochester; Director, Pediatric Sleep Medicine Services, Strong Sleep Disorders Center
Heidi Connolly, MD is a member of the following medical societies: American Academy of Pediatrics, American Thoracic Society, and Society of Critical Care Medicine
Disclosure: Nothing to disclose.

CME Editor

Mary E Cataletto, MD, Associate Director, Division of Pediatric Pulmonology, Winthrop University Hospital; Professor of Clinical Pediatrics, State University of New York at Stony Brook; Director of Children's Sleep Services, Winthrop University Hospital
Mary E Cataletto, MD is a member of the following medical societies: American Academy of Pediatrics and American College of Chest Physicians
Disclosure: Shering Plough Pharmaceuticals Honoraria Consulting

Chief Editor

Michael R Bye, MD, Attending Physician, Pediatric Pulmonary Medicine, Columbia University Medical Center; Professor of Clinical Pediatrics, Division of Pulmonary Medicine, Columbia University College of Physicians and Surgeons
Michael R Bye, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Chest Physicians, and American Thoracic Society
Disclosure: Merck Honoraria Speaking and teaching