Close
New

Medscape is available in 5 Language Editions – Choose your Edition here.

 

Primary Ciliary Dyskinesia Follow-up

  • Author: Girish D Sharma, MD, FCCP, FAAP; Chief Editor: Michael R Bye, MD  more...
 
Updated: Apr 14, 2016
 

Deterrence/Prevention

Recommendations from the European Respiratory Society task force on diagnostic and treatment approaches in children with PCD include exclusion of this diagnosis in children found to have situs inversus totalis or any heterotaxic syndrome, in the siblings of probands, in babies with otherwise unexplained neonatal respiratory distress other features of PCD are present, in children with chronic productive cough, and in patients with bronchiectasis of unknown cause, particularly if other features of PCD are present.[29]

Next

Prognosis

See the list below:

  • The progression of lung disease varies and is affected by the time of diagnosis, the ability of medical treatment to control symptoms, and the prevention of complications that affect the quality of life.
  • Some individuals have a normal or near normal lifespan. No studies have examined the impact of current symptomatic therapies on the course of disease.
Previous
Next

Patient Education

See the list below:

  • Genetic counseling should be offered to parents of newly diagnosed infants and children. The importance of regular health monitoring should be emphasized. Counsel patients to avoid smoke, allergens, environmental irritants, and exposure to respiratory pathogens.
  • For patient education resources, see the Procedures Center, as well as Bronchoscopy.
Previous
 
Contributor Information and Disclosures
Author

Girish D Sharma, MD, FCCP, FAAP Professor of Pediatrics, Rush Medical College; Director, Section of Pediatric Pulmonology and Rush Cystic Fibrosis Center, Rush Children's Hospital, Rush University Medical Center

Girish D Sharma, MD, FCCP, FAAP is a member of the following medical societies: American Academy of Pediatrics, American College of Chest Physicians, American Thoracic Society, Royal College of Physicians of Ireland

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Chief Editor

Michael R Bye, MD Professor of Clinical Pediatrics, State University of New York at Buffalo School of Medicine; Attending Physician, Pediatric Pulmonary Division, Women's and Children's Hospital of Buffalo

Michael R Bye, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Chest Physicians, American Thoracic Society

Disclosure: Nothing to disclose.

Additional Contributors

Susanna A McColley, MD Professor of Pediatrics, Northwestern University, The Feinberg School of Medicine; Director of Cystic Fibrosis Center, Head, Division of Pulmonary Medicine, Children's Memorial Medical Center of Chicago

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, American Thoracic Society

Disclosure: Received honoraria from Genentech for speaking and teaching; Received honoraria from Genentech for consulting; Partner received consulting fee from Boston Scientific for consulting; Received honoraria from Gilead for speaking and teaching; Received consulting fee from Caremark for consulting; Received honoraria from Vertex Pharmaceuticals for speaking and teaching.

Acknowledgements

Heidi Connolly, MD Associate Professor of Pediatrics and Psychiatry, University of Rochester School of Medicine and Dentistry; 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.

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. 1976 Jul 23. 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. 1985 Feb 21. 312(8):463-8. [Medline].

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

  6. Leigh MW, Pittman JE, Carson JL, Ferkol TW, Dell SD, Davis SD. Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. Genet Med. 2009 Jul. 11(7):473-87. [Medline].

  7. Lie H, Zariwala MA, Helms C, Bowcock AM, Carson JL, Brown DE 3rd. Primary ciliary dyskinesia in Amish communities. J Pediatr. 2010 Jun. 156(6):1023-5. [Medline].

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

  9. Knowles MR, Leight MW, Carson JL et al. Mutations of DNAH 11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. Thorax. 2012. 67:433-441. [Medline]. [Full Text].

  10. Raymond H Kim, David Hall, Ernest Cutz, et al. The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia. American Thoracic Society. Available at http://www.atsjournals.org/doi/abs/10.1513/AnnalsATS.201306-194OC#.UwyzWeO-2So. Accessed: Feb 25 2014.

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

  12. Papon, JF, Bassinet L, Cariou-Patron G et. al. Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot study. Orphanet Journal of Rare Diseases. 2012. 7:78. [Medline].

  13. Kuehni CE, Frischer T, Strippoli MP, Maurer E, Bush A, Nielsen KG, et al. Factors influencing age at diagnosis of primary ciliary dyskinesia in European children. Eur Respir J. 2010 Dec. 36(6):1248-58. [Medline].

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

  15. Leigh MW, Ferkol TW, Davis SD, Lee HS, Rosenfeld M, Dell SD, et al. Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents. Ann Am Thorac Soc. 2016 Apr 12. [Medline].

  16. Mullowney T, Manson D, Kim R, Stephens D, Shah V, Dell S. Primary ciliary dyskinesia and neonatal respiratory distress. Pediatrics. 2014 Dec. 134 (6):1160-6. [Medline].

  17. 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. 1999 Dec. 65(6):1508-19. [Medline].

  18. 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. 2001 Apr. 68(4):1030-5. [Medline].

  19. 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. 2006 Jul 15. 174(2):120-6. [Medline]. [Full Text].

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

  21. Stannard WA, Chilvers MA, Rutman AR, Williams CD, O'Callaghan C. Diagnostic testing of patients suspected of primary ciliary dyskinesia. Am J Respir Crit Care Med. 2010 Feb 15. 181(4):307-14. [Medline].

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

  23. 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. 2004 Oct. 126(4):1054-9. [Medline].

  24. 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. 1999 Jun. 13(6):1402-5. [Medline].

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

  26. Harris A, Bhullar E, Gove K et al. Validation of a portable nitric oxide analyzer for screening in primary ciliary dyskinesias. biomedcentral. com. Available at http://www.biomedcentral.com/content/pdf/1471-2466-14-18.pdf. Accessed: Feb25 2014.

  27. Marthin JK, Petersen N, Skovgaard LT, Nielsen KG. Lung function in patients with primary ciliary dyskinesia: a cross-sectional and 3-decade longitudinal study. Am J Respir Crit Care Med. 2010 Jun 1. 181(11):1262-8. [Medline].

  28. Shoemark A, Dixon M, Corrin B, Dewar A. Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia. J Clin Pathol. 2012 Mar. 65(3):267-71. [Medline].

  29. Barbato A, Frischer T, Kuehni CE, Snijders D, Azevedo I, Baktai G. Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children. Eur Respir J. 2009 Dec. 34(6):1264-76. [Medline].

Previous
Next
 
Diagram showing the cross-section of normal cilia showing its ultrastructure. Important components are labeled.
Ciliary ultrastructure, Left, Normal cilium from a healthy individual in which both inner and outer dynein arms can clearly identified. Right, the absence of outer and inner dynein arms in a patient with primary ciliary dyskinesia. Image courtesy of J. Carson, PhD, University of North Carolina.
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.