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Primary Ciliary Dyskinesia (PCD) is a rare hereditary disease associated with abnormal ciliary structure and characterised by chronic respiratory tract infections, which occurs in approximately 1 in 16,000 individuals.1
The signs and symptoms of PCD are caused by abnormal cilia and flagella. Cilia are microscopic, finger-like projections that stick out from the surface of cells. They are found in the linings of the airway, the reproductive system, and other organs and tissues.
In the respiratory tract, cilia move back and forth in a coordinated way to move mucus towards the throat. This movement of mucus helps to eliminate fluid, bacteria, and particles from the lungs. Beginning in early childhood, affected individuals develop frequent respiratory tract infections. Without properly functioning cilia in the airway, bacteria may remain in the respiratory tract and cause infection. People with PCD may also suffer chronic nasal congestion and cough.
Chronic respiratory tract infections can result in a condition called bronchiectasis, which damages the passages, called bronchi, leading from the windpipe to the lungs and can cause life-threatening breathing problems. 1
Diagnosis is still often delayed or missed completely: This can result in a heavy economic and health burden on individuals, families and society.
References: 1. Primary Ciliary Dyskinesia. Genetics Home Reference, National Library of Medicine. https://ghr.nlm.nih.gov/condition/primary-ciliary-dyskinesia#. 2. Sommer JU, Schäfer K, Omran H, Olbrich H, Wallmeier J, Blum A, Hörmann K, Stuck BA ENT manifestations in patients with primary ciliary dyskinesia: prevalence and significance of otorhinolaryngologic co-morbidities. Eur Arch Otorhinolaryngol. 2011 Mar; 268(3):383-8.