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Primary Ciliary Dyskinesia (Kartagener Syndrome) 

Primary Ciliary Dyskinesia (Kartagener Syndrome)
Chapter:
Primary Ciliary Dyskinesia (Kartagener Syndrome)
Author(s):

Michal Witt

and Zuzanna Bukowy-Bieryłło

DOI:
10.1093/med/9780199934522.003.0019
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date: 25 February 2021

Primary ciliary dyskinesia, PCD, is a heterogeneous genetic disorder caused by the dysfunction of motile cilia present in the human body. Dysmotility or immotility of cilia/flagella cause recurrent respiratory airways infections, sinusitis, otitis media, bronchiectasis and male subfertility. A subtype of PCD, known as Kartagener syndrome, KS, is distinguished from other forms of PCD by the presence of situs inversus, a mirror image arrangement of the abdominal and thoracic internal organs. Apart from the typical PCD, syndromic forms of the disease, co-occurring with other conditions, exist. PCD is characterized by extensive genetic and phenotypic heterogeneity, which reflects the complexity of the ciliary structure and biology, and complicates the molecular diagnosis of individual cases. So far, twenty genes involved in PCD pathogenesis have been found, with the majority of genes encoding components of the dynein arms or their transporters. Diagnosis of PCD is based on the critical evaluation of clinical symptoms and analysis of ciliary function and electron microscopy ultrastructure. Treatment of PCD focuses on intensive antibiotic therapy combined with daily physiotherapy to prevent lung damage and bronchiectasis.

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