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Primary Ciliary Dyskinesia Clinical Presentation

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

History

Clinical manifestations vary.

  • Ear, nose, and paranasal sinuses
    • Chronic persistent rhinorrhea, sensation of local fullness, and sinus pain
    • Anosmia, nasal character of speech, and halitosis
    • Recurrent acute otitis
    • Chronic otitis
    • Recurrent sinusitis
  • CNS - Hydrocephalus in a few cases
  • Reproductive system [14] - Male infertility (common)
  • Lower respiratory tract
    • Chronic productive cough and respiratory distress, especially in infants
    • Bronchospastic symptoms (eg, wheeze and cough), usually responsive to bronchodilator therapy
    • Recurrent or persistent atelectasis or pneumonia
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Physical

See the list below:

  • Nose and paranasal sinuses
    • Nasal mucosal congestion
    • Mucopurulent nasal discharge
    • Nasal obstruction
    • Mouth breathing and halitosis
    • Nasal polyps
  • Ears
    • Inflammation of tympanic membranes
    • Perforation with purulent discharge
    • Hearing loss
  • Lower respiratory tract
    • Respiratory distress
    • Retractions
    • Hypoxia
    • Crackles, wheeze
  • Other
    • Apex beat and heart sounds on the right side, if associated dextrocardia is present
    • Evidence of situs inversus, such as the spleen and liver on the incorrect side
    • Digital clubbing in cases with chronic and recurrent lower respiratory infections

 

A study by Leigh et al reported that four criteria-defined clinical features were statistically predictive of PCD in children and adolescents. The four features were laterality defect; unexplained, neonatal respiratory distress; early-onset, year-round nasal congestion; and early-onset, year-round wet cough.[15]

A study by Mullowney et al concluded that when encountering term neonates with unexplained respiratory distress, clinicians should consider PCD in those with lobar collapse, situs inversus, and/or prolonged oxygen therapy (>2 days).[16]

 

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Causes

Primary ciliary dyskinesia (PCD) is a genetic disorder, and it appears to follow the autosomal recessive inheritance pattern. Two genes directly implicated in autosomal recessive PCD are DNAI1 and DNAH5, which encode for components of the outer dynein arm complex.[17, 18, 19, 20] Mutations in these genes are detected in 38% of patients with PCD. Commercial testing for these mutations is available and may help with the diagnosis.

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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].

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  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].

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  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].

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  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].

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  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].

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  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].

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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.
 
 
 
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