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immotile cilia syndrome

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Immotile cilia syndrome is a rare disorder in which there is an ultrastructural defect in the cilia in various cells. It is inherited in autosomal recessive manner with an estimated prevalence of 1 in 10,000 (1). It affects the ciliated epithelium of the upper respiratory tract and therefore results in ineffective clearing of mucus.

Parents of a child with primary ciliary dyskinesia (PCD) generally have no history of chronic lung disease. There is a 25% chance that another child is affected by the condition.

  • characterised by recurrent and chronic infections of the upper and lower respiratory tracts, with symptoms starting soon after birth caused by impaired mucociliary clearance (MCC)
    • motile cilia are microscopic hair-like organelles on the apical surface of epithelial cells
      • in healthy individuals, cilia clear airway mucus, bacteria and debris by coordinated beating
    • PCD is caused by abnormality of ciliary beating, which is often, but not always, associated with abnormal ciliary structure
      • in addition to the lungs, motile cilia are found in the middle ear, paranasal sinuses, female reproductive tract and ependyma of the brain (1,2)
        • therefore, the majority of patients with PCD have non-chest symptoms; for example, in a cohort of 78 patients, 95% reported recurrent otitis media and 54% had significant sinus disease (1)

Motile cilia on the embryonic node have an important role determining left-right symmetry

  • approximately 50% of PCD patients having situs inversus (3)

Reference:

  • Noone PG, Leigh MW, Sannuti A, et al . Primary ciliary dyskinesia: diagnostic and phenotypic features. Am J Respir Crit Care Med 2004;169:459-67.
  • Kennedy MP, Omran H, Leigh MW, et al . Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia. Circulation 2007;115:2814-21.
  • Kuehni CE, Frischer T, Strippoli MP, et al . Factors influencing age at diagnosis of primary ciliary dyskinesia in European children. Eur Respir J 2010;36:1248-58.

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