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ciliary dyskinesia; immotile cilia syndrome (Kartagener's syndrome)

Etiology: 1) inherited: loss of dynein arm 2) acquired a) smoking b) bronchitis c) viral infections d) other pulmonary diseases Epidemiology: 1 in 20,000 to 40,000 (inherited) Pathology: 1) defects in organization of microtubules 2) ciliary dyskinesia not immobility is major abnormality 3) many types of ciliary abnormalities a) loss of radial spokes b) eccentric tubules c) adhesion of multiple cilia d) at least 20 different varieties described 4) recurrent respiratory infections, chronic inflammation & bronchiectasis due to defects in respiratory cilia 5) abnormalities of sperm tails 6) situs inversus - up to 50% the patients exhibit situs inversus, due to dysfunction of cilia at the embryonic node & randomization of left-right body asymmetry Genetics: - autosomal recessive - associated with defects in DNAI1 (primary ciliary dyskinesia 1) - associated with defects in DNAH5 (primary ciliary dyskinesia 3) - associated with defects in DNAH11, DPCD Clinical manifestations: 1) 50% have triad of: a) situs inversus b) chronic sinusitis c) bronchiectasis or chronic bronchitis 2) nasal polyps 3) inner ear infections 4) deafness 5) mastoiditis 6) recurrent respiratory infections - fevers, worsening productive cough, shortness of breath [3] 7) chronic bronchitis, bronchiectasis - rales, expiratory wheezing in both lungs [3] 8) impaired sperm motility & infertility in males - women with immotile cilia syndrome are often fertile - but not always Laboratory: - sputum cultures: - case report of Pseudomonas aeruginosa [3] - electron microscopy of: a) nasal mucosa b) bronchial mucosa c) semen Radiology: - CT of chest demonstrates bronchiectasis [3] - situs inversus in 50% - CT of head - case report of acute sinusitis with maxillary sinus air-fluid levels [3] * (images) [3] Management: - antibiotic treatment of lower respiratory tract infection - case report of Pseudomonas aeruginosa responding to levofloxacin [3]

Related

bronchiectasis chronic bronchitis cilia dynein microtubule

General

ciliary disorder; ciliopathy genetic disease of the lung genetic syndrome (multisystem disorder) otorhinolaryngologic disease; ear, nose & throat (ENT) disease urogenital disease

Database Correlations

OMIM correlations Entrez Gene 64774

References

  1. Cotran et al, Robbins Pathologic Basis of Disease, 5th ed. W.B. Saunders Co, Philadelphia, PA 1994 pg 24
  2. Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 746-47
  3. Zurcher K, Kawashima A Images in Clinical Medicine. Kartagener's Syndrome N Engl J Med. 2021. March 20. PMID: 33764707 https://www.nejm.org/doi/full/10.1056/NEJMicm2028152
  4. Dunsky K, Menezes M, Ferkol TW Advances in the Diagnosis and Treatment of Primary Ciliary Dyskinesia. A Review. JAMA Otolaryngol Head Neck Surg. Published online June 17, 2021 PMID: 34137802 https://jamanetwork.com/journals/jamaotolaryngology/fullarticle/2781298
  5. Shapiro AJ, Davis SD, Polineni D et al Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline. Am J Respir Crit Care Med. 2018 Jun 15;197(12):e24-e39 PMID: 29905515 PMCID: PMC6006411 Free PMC article