Primary ciliary dyskinesia: Difference between revisions
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* 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. | ||
** 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. | |||
<noinclude> | <noinclude> | ||
=== | == Links == | ||
* {{ | === Related articles === | ||
* [[Chronic lung diseases]] | |||
=== References === | |||
* {{Cite|type = web|surname1 = Beneš|name1 = Jiří|source_name = Studijní materiály|year = |cited = 2010|url = http://jirben.wz.cz}} | |||
{{Pahýl}} | {{Pahýl}} | ||
</noinclude> | </noinclude> | ||
[[ | [[Category:Embedded articles]] | ||
[[ | [[Category:Paediatrics]] | ||
[[ | [[Category:Pneumology]] | ||
[[ | [[Category:Genetics]] | ||
[[ | [[Category:Internal Medicine]] | ||
Latest revision as of 13:14, 19 November 2023
- 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[edit | edit source]
- 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[edit | edit source]
- Symptomatic, similar to other bronchiectasis.
Links[edit | edit source]
Related articles[edit | edit source]
References[edit | edit source]
- BENEŠ, Jiří. Studijní materiály [online]. [cit. 2010]. <http://jirben.wz.cz>.
