Primary ciliary dyskinesia
From WikiLectures
- 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>.
