Kartagener Syndrome Treatment & Management

  • Author: John P Bent lll, MD; Chief Editor: Zab Mosenifar, MD   more...
 
Updated: Aug 16, 2011
 

Medical Care

The most common infectious organisms affecting children with primary ciliary dyskinesia (PCD) are Haemophilus influenza and Staphylococcus aureus. All primary ciliary dyskinesia patients should receive comprehensive immunizations, including the influenza A and pneumococcal vaccines.

Antibiotics, intravenous or oral and continuous or intermittent, are used to treat upper and lower airway infections. Although prophylactic antibiotics should be used with great caution in this era of emerging antibiotic resistance, children with primary ciliary dyskinesia are especially good candidates for long-term low-dose preventative antibiotics.

Obstructive lung disease, if present, should be treated with inhaled bronchodilators and aggressive pulmonary toilet. Mucolytics may be helpful. Anecdotal reports indicate that inhaled antibiotics, oral and inhaled corticosteroids, and recombinant human DNAse have been used, but no large studies support the use of these agents.[23]

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Surgical Care

Tympanostomy tubes are required to reduce conductive hearing loss and recurrent infections. Many patients undergo repeated tympanostomy tube insertions, often complicated by chronic suppurative otitis media. Chronic otorrhea may require special measures for aural hygiene, such as regular otomicroscopy, acetic acid irrigations, or culture-guided topical or systemic antibiotic therapy. Because of anticipated long-term middle-ear disease, inserting tympanostomy tubes is the most sensible method of maintaining the myringotomy because the tube can be expected to stay in the tympanic membrane longer than routine grommets.

When sinus disease is refractory to medical management, functional endoscopic sinus surgery leads to transient improvement in upper and lower respiratory tract symptoms.[24] The antiquated procedure of making a nasal antral window underneath the inferior turbinate may have a role in the management of primary ciliary dyskinesia because this procedure relies on gravitational rather than ciliary clearance of mucus.

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Consultations

Consultations from an otolaryngologist, geneticist, pulmonologist, social services agent, or obstetrician/gynecologist or urologist/male fertility specialist (infertility) may be indicated.

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Activity

Activities can be performed as tolerated; however, patients usually experience mild limitations in physical tolerance.

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Contributor Information and Disclosures
Author

John P Bent lll, MD  Associate Professor, Director of Medical Student Education, Departments of Otolaryngology - Head and Neck Surgery and Pediatrics, Albert Einstein School of Medicine; Director, Airway Clinic, Children's Hospital at Montefiore

John P Bent lll, MD is a member of the following medical societies: American Academy of Otolaryngology-Head and Neck Surgery, American Medical Association, American Rhinologic Society, American Society of Pediatric Otolaryngology, Society for Ear, Nose and Throat Advances in Children, and Society of University Otolaryngologists-Head and Neck Surgeons

Disclosure: Nothing to disclose.

Coauthor(s)

Elena B Willis, MD  Resident Physician, Department of Otorhinolaryngology, Albert Einstein College of Medicine, Montefiore Medical Center

Elena B Willis, MD is a member of the following medical societies: American Academy of Otolaryngology-Head and Neck Surgery, American Medical Student Association/Foundation, and Wilderness Medical Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Ryland P Byrd Jr, MD  Professor, Department of Internal Medicine, Division of Pulmonary Medicine and Critical Care Medicine, Program Director of Pulmonary Diseases and Critical Care Medicine Fellowship, East Tennessee State University, James H Quillen College of Medicine; Medical Director of Respiratory Therapy, James H Quillen Veterans Affairs Medical Center

Ryland P Byrd Jr, MD is a member of the following medical societies: American College of Chest Physicians and American Thoracic Society

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD  Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

Daniel R Ouellette, MD, FCCP  Associate Professor of Medicine, Wayne State University School of Medicine; Consulting Staff, Pulmonary Disease and Critical Care Medicine Service, Henry Ford Health System

Daniel R Ouellette, MD, FCCP is a member of the following medical societies: American College of Chest Physicians and American Thoracic Society

Disclosure: Boehringer Ingleheim Honoraria Speaking and teaching; Pfizer Honoraria Speaking and teaching; Astra Zeneca Honoraria Speaking and teaching

Timothy D Rice, MD  Associate Professor, Departments of Internal Medicine and Pediatrics and Adolescent Medicine, St Louis University School of Medicine

Timothy D Rice, MD is a member of the following medical societies: American Academy of Pediatrics and American College of Physicians

Disclosure: Nothing to disclose.

Chief Editor

Zab Mosenifar, MD  Director, Division of Pulmonary and Critical Care Medicine, Director, Women's Guild Pulmonary Disease Institute, Professor and Executive Vice Chair, Department of Medicine, Cedars Sinai Medical Center, University of California, Los Angeles, David Geffen School of Medicine

Zab Mosenifar, MD is a member of the following medical societies: American College of Chest Physicians, American College of Physicians, American Federation for Medical Research, and American Thoracic Society

Disclosure: Nothing to disclose.

Acknowledgments

The authors and editors of eMedicine gratefully acknowledge the contributions of previous authors, Matthew Olearczyk, MD and Esther X Vivas, MD, to the development and writing of this article.

References

  1. Kartagener M. Zur pathogenese der bronchiectasien. I Mitteilung:bronchiectasien bei situs viscerum inversus. Betr Klin Tuberk. 1933;83:498-501.

  2. Camner P, Mossberg B, Afzelius BA. Evidence of congenitally nonfunctioning cilia in the tracheobronchial tract in two subjects. Am Rev Respir Dis. Dec 1975;112(6):807-9. [Medline].

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

  4. Eliasson R, Mossberg B, Camner P, Afzelius BA. The immotile-cilia syndrome. A congenital ciliary abnormality as an etiologic factor in chronic airway infections and male sterility. N Engl J Med. Jul 7 1977;297(1):1-6. [Medline].

  5. Rossman CM, Forrest JB, Lee RM, Newhouse MT. The dyskinetic cilia syndrome. Ciliary motility in immotile cilia syndrome. Chest. Oct 1980;78(4):580-2. [Medline].

  6. Sturgess JM, Chao J, Wong J, Aspin N, Turner JA. Cilia with defective radial spokes: a cause of human respiratory disease. N Engl J Med. Jan 11 1979;300(2):53-6. [Medline].

  7. Pedersen M. Specific types of abnormal ciliary motility in Kartagener's syndrome and analogous respiratory disorders. A quantified microphoto-oscillographic investigation of 27 patients. Eur J Respir Dis Suppl. 1983;127:78-90. [Medline].

  8. Cho DY, Hwang PH, Illek B. Characteristics of chloride transport in nasal mucosa from patients with primary ciliary dyskinesia. Laryngoscope. July 2010;120(7):1460-1464. [Medline].

  9. Pifferi M, Bush A, Caramella D, Di Cicco M, Zangani M, Chinellato I, et al. Agenesis of paranasal sinuses and nasal nitric oxide in primary ciliary dyskinesia. Eur Respir J. March 2011;37(3):566-571. [Medline].

  10. Sommer JU, Schäfer K, Omran H, Olbrich H, Wallmeier J, Blum A, et al. ENT manifestations in patients with primary ciliary dyskinesia: prevalence and significance of otorhinolaryngologic co-morbidities. Eur Arch Otorhinolaryng. March 2011;268(3):383-388. [Medline].

  11. Greenstone M, Stanley P, Cole P, Mackay I. Upper airway manifestations of primary ciliary dyskinesia. J Laryngol Otol. Oct 1985;99(10):985-91. [Medline].

  12. Prulière-Escabasse V, Coste A, Chauvin P, Fauroux B, Tamalet A, Garabedian EN, et al. Otologic features in children with primary ciliary dyskinesia. Arch Otolaryngology Head and Neck Surg. Nov 2010;136(11):1121-1126. [Medline].

  13. Skeik N, Jabr Fl. Kartagener syndrome. Int J Gen Med. Jan/2011;12:41-43. [Medline].

  14. Bush A, Chodhari R, Collins N, Copeland F, Hall P, Harcourt J. Primary ciliary dyskinesia: current state of the art. Arch Dis Child. Dec 2007;92(12):1136-40. [Medline].

  15. Geremek M, Bruinenberg M, Ziętkiewicz E, Pogorzelski A, Witt M, Wijmenga C. Gene expression studies in cells from primary ciliary dyskinesia patients identify 208 potential ciliary genes. Hum Genet. March 2011;129:283-293. [Medline].

  16. Becker-Heck A, Zohn IE, Okabe N, Pollock A, Lenhart KB, Sullivan-Brown J, et al. The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. Nat Genet. Jan 2011;43(1):79-84. [Medline].

  17. Milara J, Armengot M, Mata M, Morcillo EJ, Cortijo J. Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia. Am J Rhinol Allergy. May 2010;24(3):181-185. [Medline].

  18. Nadel HR, Stringer DA, Levison H, Turner JA, Sturgess JM. The immotile cilia syndrome: radiological manifestations. Radiology. Mar 1985;154(3):651-5. [Medline].

  19. Pifferi M, Bush A, Maggi F, Michelucci A, Ricci V, Conidi ME, et al. Nasal nitric oxide and nitric oxide synthase expression in primary ciliary dyskinesia. Eur Respir J. March 2011;37:572-577. [Medline].

  20. 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 2010;181(4):307-314. [Medline].

  21. Kupferberg SB, Bent JP, Porubsky ES. The evaluation of ciliary function: electron versus light microscopy. Am J Rhinol. May-Jun 1998;12(3):199-201. [Medline].

  22. Mierau GW, Agostini R, Beals TF, Carlén B, Dardick I, Henderson DW, et al. The role of electron microscopy in evaluating ciliary dysfunction: report of a workshop. Ultrastruct Pathol. Jan-Apr 1992;16(1-2):245-54. [Medline].

  23. Desai M, Weller PH, Spencer DA. Clinical benefit from nebulized human recombinant DNase in Kartagener's syndrome. Pediatr Pulmonol. Nov 1995;20(5):307-8. [Medline].

  24. Parsons DS, Greene BA. A treatment for primary ciliary dyskinesia: efficacy of functional endoscopic sinus surgery. Laryngoscope. Nov 1993;103(11 Pt 1):1269-72. [Medline].

  25. Afzelius BA, Gargani G, Romano C. Abnormal length of cilia as a possible cause of defective mucociliary clearance. Eur J Respir Dis. Mar 1985;66(3):173-80. [Medline].

  26. Bent JP 3rd, Smith RJ. Intraoperative diagnosis of primary ciliary dyskinesia. Otolaryngol Head Neck Surg. Jan 1997;116(1):64-7. [Medline].

  27. Carlén B, Stenram U. Ultrastructural diagnosis in the immotile cilia syndrome. Ultrastruct Pathol. 1987;11(5-6):653-8. [Medline].

  28. Chin GY, Karas DE, Kashgarian M. Correlation of presentation and pathologic condition in primary ciliary dyskinesia. Arch Otolaryngol Head Neck Surg. Nov 2002;128(11):1292-4. [Medline].

  29. 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].

  30. de Iongh RU, Rutland J. Ciliary defects in healthy subjects, bronchiectasis, and primary ciliary dyskinesia. Am J Respir Crit Care Med. May 1995;151(5):1559-67. [Medline].

  31. Eavey RD, Nadol JB Jr, Holmes LB, Laird NM, Lapey A, Joseph MP, et al. Kartagener's syndrome. A blinded, controlled study of cilia ultrastructure. Arch Otolaryngol Head Neck Surg. Jun 1986;112(6):646-50. [Medline].

  32. el-Sayed Y, al-Sarhani A, al-Essa AR. Otological manifestations of primary ciliary dyskinesia. Clin Otolaryngol Allied Sci. Jun 1997;22(3):266-70. [Medline].

  33. Engesaeth VG, Warner JO, Bush A. New associations of primary ciliary dyskinesia syndrome. Pediatr Pulmonol. Jul 1993;16(1):9-12. [Medline].

  34. Fonzi L, Lungarella G, Palatresi R. Lack of kinocilia in the nasal mucosa in the immotile-cilia syndrome. Eur J Respir Dis. Nov 1982;63(6):558-63. [Medline].

  35. Lungarella G, De Santi MM, Palatresi R, Tosi P. Ultrastructural observations on basal apparatus of respiratory cilia in immotile cilia syndrome. Eur J Respir Dis. Mar 1985;66(3):165-72. [Medline].

  36. Lurie M, Rennert G, Goldenberg S, Rivlin J, Greenberg E, Katz I. Ciliary ultrastructure in primary ciliary dyskinesia and other chronic respiratory conditions: the relevance of microtubular abnormalities. Ultrastruct Pathol. Sep-Oct 1992;16(5):547-53. [Medline].

  37. Merveille AC, Davis EE, Becker-Heck A, Legendre M, Amirav I, Bataille G, et al. CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Nat Genet. Jan 2011;43(1):72-78. [Medline].

  38. Mygind N, Pedersen M. Nose-, sinus- and ear-symptoms in 27 patients with primary ciliary dyskinesia. Eur J Respir Dis Suppl. 1983;127:96-101. [Medline].

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

  40. Philpott CM, McKiernan DC. Bronchiectasis and sino-nasal disease: a review. J Laryngol Otol. Jan 2008;122(1):11-5. [Medline].

  41. Rayner CF, Rutman A, Dewar A, Greenstone MA, Cole PJ, Wilson R. Ciliary disorientation alone as a cause of primary ciliary dyskinesia syndrome. Am J Respir Crit Care Med. Mar 1996;153(3):1123-9. [Medline].

  42. Schidlow DV. Primary ciliary dyskinesia (the immotile cilia syndrome). Ann Allergy. Dec 1994;73(6):457-68; quiz 468-70. [Medline].

  43. Sleigh MA, Blake JR, Liron N. The propulsion of mucus by cilia. Am Rev Respir Dis. Mar 1988;137(3):726-41. [Medline].

  44. Teknos TN, Metson R, Chasse T, Balercia G, Dickersin GR. New developments in the diagnosis of Kartagener's syndrome. Otolaryngol Head Neck Surg. Jan 1997;116(1):68-74. [Medline].

  45. van der Baan S, Veerman AJ, Bezemer PD, Feenstra L. Primary ciliary dyskinesia: quantitative investigation of the ciliary ultrastructure with statistical analysis. Ann Otol Rhinol Laryngol. May-Jun 1987;96(3 Pt 1):264-72. [Medline].

  46. van der Baan S, Veerman AJ, Wulffraat N, Bezemer PD, Feenstra L. Primary ciliary dyskinesia: ciliary activity. Acta Otolaryngol. Sep-Oct 1986;102(3-4):274-81. [Medline].

 
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