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.

Related articles

 * Chronic lung diseases