Ciliary Dyskinesia
From Anvita Health Wiki
Contents |
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
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
- nasal polyps
- chronic sinusitis
- inner ear infections
- deafness
- mastoiditis
- recurrent respiratory infections
- chronic bronchitis, bronchiectasis
- impaired sperm motility & infertility in males
- up to 50% the patients exhibit situs inversus, due to dysfunction of cilia at the embryonic node & randomization of left-right body asymmetry
- 50% have triad of:
Laboratory
-
- nasal mucosa
- bronchial mucosa
- semen
More General Terms
- ciliary disorder
- genetic syndrome (multisystem disorder)
- genetic disease of the lung
- urogenital disease
- otorhinolaryngologic disease; ear, nose & throat (ENT) disease
Additional Terms
Internet Database
OMIM: 244400
OMIM: 608644
Entrez gene: 64774
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
