“Primary ciliary dyskinesia is a genetically heterogeneous autosomal-recessive disorder with an incidence of 1:15,000 live births. This disorder affects the proper biogenesis, assembly and activity of cilia, resulting in dysfunction of motile cilia and impairment of MCC. The clinical features include situs inversus in 50% of the patients, infertility, and chronic ear infections. The disease affects the entire respiratory tract, with symptoms appearing soon after birth. Over 80% of PCD patients experience neonatal respiratory distress during the first 24 h of life (Shapiro et al. 2016). Because of impaired MCC, mucus and pathogens accumulate in the upper and lower airways causing year-round daily cough and nasal congestion, chronic sinusitis, and recurrent lower respiratory infections, leading to bronchiectasis, and, in severe cases, lung transplantation.” ~ https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5378048/#!po=53.9474

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Did you know that: “Case series of patients recruited in tertiary care centres typically report predominantly Caucasian patients, which has led to the belief that gene mutations associated with PCD (primary ciliary dyskinesia) occur predominantly in white populations. However, the registry data from the PCD clinic (The Hospital for Sick Children, Toronto, Ontario) suggest a much more heterogeneous picture, with 40% of the PCD population being of non-Caucasian origin (mainly Asian). The fact that most patients recruited for studies at tertiary care centres are Caucasian likely highlights the underdiagnosis of this disease, particularly in visible minority populations.” ~ Sharon D Dell, BEng MD FRCPC

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“PCD is a genetically heterogeneous disorder affecting motile cilia which are made up of approximately 250 proteins. Around 90% of individuals with PCD have ultrastructural defects affecting protein(s) in the outer and/or inner dynein arms, which give cilia their motility, with roughly 38% of these defects caused by mutations on two genes, DNAI1 and DNAH5, both of which code for proteins found in the ciliary outer dynein arm.” ~ https://en.wikipedia.org/wiki/Primary_ciliary_dyskinesia

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Apparent in most young children with PCD, chronic/recurrent ear infection becomes less apparent by school age. In many infants and young children, chronic otitis media is associated with transient hearing loss that may affect speech development. If untreated, infections of the middle ear may result in irreversible hearing loss.

https://www.ncbi.nlm.nih.gov/sites/books/NBK1122/

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