Primary ciliary dyskinesia: Difference between revisions
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* Older name: | * Older name: immotile cilia syndrome; OMIM: [http://omim.org/entry/244400 244400] | ||
* | * It is a generalized disorder of motility of cilia and flagella of all cells, inherited in an [[Autosomal recessive inheritance in pedigree and experiment, examples of traits in man|autosomal recessive]] manner. | ||
** | ** The movement is either completely absent or is uncoordinated. | ||
** was originally described | ** It was originally described as part of [[Kartagener's syndrome]] ([[bronchiectasis]], [[sinusitis]], [[situs viscerum inversus]]). | ||
=== Clinical picture === | === Clinical picture === | ||
* Impaired self-cleaning ability of the epithelium, productive expectoration and bronchiectasis occur. | * Impaired self-cleaning ability of the epithelium, productive expectoration and bronchiectasis occur. | ||
* Other symptoms | * Other symptoms: [[sinusitis]], chronic rhinitis, rhinorrhea, nasal polyps, recurrent otitis, conduction disorder [[hearing loss]], tympanic perforation, DC obstruction, recurrent [[pneumonia]], [[ infertility]]. | ||
* Situs viscerum inversus | * Situs viscerum inversus only occurs in about 50% of cases. | ||
* Diagnosis | * Diagnosis: complicated confirmation and it is necessary to know the result of electron microscopy and high-speed video microscopy (HSVM). | ||
=== Therapy === | === Therapy === | ||
Revision as of 20:57, 11 February 2022
- Older name: immotile cilia syndrome; OMIM: 244400
- It is a generalized disorder of motility of cilia and flagella of all cells, inherited in an autosomal recessive manner.
- The movement is either completely absent or is uncoordinated.
- It was originally described as part of Kartagener's syndrome (bronchiectasis, sinusitis, situs viscerum inversus).
Clinical picture
- Impaired self-cleaning ability of the epithelium, productive expectoration and bronchiectasis occur.
- Other symptoms: sinusitis, chronic rhinitis, rhinorrhea, nasal polyps, recurrent otitis, conduction disorder hearing loss, tympanic perforation, DC obstruction, recurrent pneumonia, infertility.
- Situs viscerum inversus only occurs in about 50% of cases.
- Diagnosis: complicated confirmation and it is necessary to know the result of electron microscopy and high-speed video microscopy (HSVM).
Therapy
- Symptomatic, similar to other bronchiectasis.
Links
Related articles
References
- BENEŠ, Jiří. Studijní materiály [online]. [cit. 2010]. <http://jirben.wz.cz>.
