ciliary dyskinesia; immotile cilia syndrome (Kartagener's syndrome)
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Etiology
- inherited: loss of dynein arm
- acquired
Epidemiology
1 in 20,000 to 40,000 (inherited)
Pathology
- defects in organization of microtubules
- ciliary dyskinesia not immobility is major abnormality
- many types of ciliary abnormalities
- recurrent respiratory infections, chronic inflammation & bronchiectasis due to defects in respiratory cilia
- abnormalities of sperm tails
- 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
- 50% have triad of:
- nasal polyps
- inner ear infections
- deafness
- mastoiditis
- recurrent respiratory infections
- fevers, worsening productive cough, shortness of breath[3]
- chronic bronchitis, bronchiectasis
- rales, expiratory wheezing in both lungs[3]
- impaired sperm motility & infertility in males
Laboratory
- sputum cultures:
- case report of Pseudomonas aeruginosa[3]
- electron microscopy of:
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]
More general terms
- ciliary disorder; ciliopathy
- genetic syndrome (multisystem disorder)
- genetic disease of the lung
- urogenital disease
- otorhinolaryngologic disease; ear, nose & throat (ENT) disease
Additional terms
References
- ↑ Cotran et al, Robbins Pathologic Basis of Disease, 5th ed. W.B. Saunders Co, Philadelphia, PA 1994 pg 24
- ↑ Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 746-47
- ↑ 3.0 3.1 3.2 3.3 3.4 3.5 3.6 3.7 Zurcher K, Kawashima A Images in Clinical Medicine. Kartagener's Syndrome N Engl J Med. 2021. March 20. PMID: https://www.ncbi.nlm.nih.gov/pubmed/33764707 https://www.nejm.org/doi/full/10.1056/NEJMicm2028152
- ↑ 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: https://www.ncbi.nlm.nih.gov/pubmed/34137802 https://jamanetwork.com/journals/jamaotolaryngology/fullarticle/2781298
- ↑ 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: https://www.ncbi.nlm.nih.gov/pubmed/29905515 PMCID: PMC6006411 Free PMC article