Primary Ciliary Dyskinesia Follow-up

  • Author: Girish D Sharma, MD; Chief Editor: Michael R Bye, MD   more...
 
Updated: Jul 1, 2010
 

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.[21]

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Prognosis

  • 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.
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Patient Education

  • 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 excellent patient education resources, visit eMedicine's Procedures Center. Also, see eMedicine's patient education article Bronchoscopy.
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Contributor Information and Disclosures
Author

Girish D Sharma, MD  Associate Professor of Pediatrics, Rush Medical College; Director, Section of Pediatric Pulmonology and Rush Cystic Fibrosis Center, Rush University Medical 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.

Specialty Editor Board

Susanna A McColley, MD  Associate Professor, Department 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, and American Thoracic Society

Disclosure: Genentech Honoraria Speaking and teaching; Genentech Honoraria Consulting; Boston Scientific Consulting fee Consulting; Gilead Honoraria Speaking and teaching; Caremark Consulting fee Consulting; Vertex Pharmaceuticals Honoraria Speaking and teaching

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Pharmacy Editor, eMedicine

Disclosure: Nothing to disclose.

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.

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  Professor of Clinical Pediatrics, Division of Pulmonary Medicine, Columbia University College of Physicians and Surgeons; Attending Physician, Pediatric Pulmonary Medicine, Morgan Stanley Children's Hospital of New York Presbyterian, Columbia University Medical Center

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: 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. 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. Leigh MW, Pittman JE, Carson JL, Ferkol TW, Dell SD, Davis SD. Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. Genet Med. Jul 2009;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. Jun 2010;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. Aug 7 1980;303(6):318-22. [Medline].

  9. 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].

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

  11. 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].

  12. 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].

  13. 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].

  14. 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].

  15. 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. Feb 15 2010;181(4):307-14. [Medline].

  16. 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].

  17. 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].

  18. 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].

  19. 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].

  20. 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. Jun 1 2010;181(11):1262-8. [Medline].

  21. 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. Dec 2009;34(6):1264-76. [Medline].

 
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Diagram showing the cross-section of normal cilia showing its ultrastructure. Important components are labeled.
 
 
 
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