“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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Did you know that a person who has PCD (Primary Ciliary Dyskinesia) can be born, live their whole life, die, and never be diagnosed with with PCD? This is what has lead to an inconsistent data collection for researchers. Babies who often die just after birth are never given much of a diagnosis beyond pneumonia or respiratory failure. The true cause of a baby’s death isn’t explored unless the family pushes for it via autopsy. People with PCD are often misdiagnosed or just diagnosed with asthma, COPD (Chronic Obstructive Pulmonary Disease), and or BE (Bronchiectasis) and the underlying cause of their COPD or BE is never explored. Even patients who have had lung transplants may or may not have had PCD, and the PCD diagnosis was missed. The very wide range of symptoms and severity levels of PCD, which sometimes can be correlated to the PCD causing gene mutation that a person has, can contribute to a person living their whole life without knowing that they have PCD. This is why it is so hard for researchers to have an accurate life expectancy outlook for the PCD patient.

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#PCDawareness to help find a #cure4PCD!