Primary ciliary dyskinesia

• 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

• Chronic lung diseases

References

• BENEŠ, Jiří. Studijní materiály [online]. [cit. 2010]. <http://jirben.wz.cz>.

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