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primary ciliary dyskinesia

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Kartagener's syndrome is the combination of:

  • bronchiectasis
  • sinusitis
  • dextrocardia

Kartagener's syndrome (KS) is an important as well as rare subgroup of primary ciliary dyskinesia (PCD)

  • in KS, defective ciliary movement results in sinusitis, bronchiectasis, and dextrocardia. During the embryonic stage, organ position is determined by uniform ciliary beating but in KS, due to ciliary dysmotility heart along with the other organs fail to move on to the left side, resulting in dextrocardia and situs inversus
  • these patients usually present with repeated lower respiratory infection in childhood leading to bronchiectasis and infertility in adulthood
    • 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
  • pattern of inheritance is autosomal recessive
  • situs inversus is a developmental consequence of failure of ciliary action in the formation of the gastrointestinal tract and other stuctures
  • in the ECG there are inverted P waves in lead I abd there is reversed R-wave progression. It has a good prognosis.

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.

PCD also known as immotile cilia syndrome is a rare disorder, estimated prevalence of 1 in 10,000 live births (1)

  • KS and Young's syndrome are the two important variants of PCD
  • prevalence of KS is around 1 in 60,000 populations (2) more common among people with consanguineous marriages.
  • diagnostic triad of KS is bronchiectasis, chronic sinusitis, and situs inversus

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.
  • Boat TF, Carson JL. Ciliary dysmorphology and dysfunction: Primary or acquired? N Engl J Med. 1990;323:1700-2

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