Kartagener syndrome

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Kartagener syndrome is a subset of primary ciliary dyskinesia, an autosomal recessive condition characterised by abnormal ciliary structure and/or function, leading to impaired mucociliary clearance. 

Epidemiology

The prevalence of primary ciliary dyskinesia is approximately 1 in 12 12,000-60,000 5. Approximately 50% of patient with primary ciliary dyskinesia have Kartagener Kartagener syndrome / situs abnormality. No gender predilection is recognised. 

Clinical presentation

Kartagener syndrome is characterised by the clinical triad of1

Other features include

  • telecanthus: widened interpupillary distance by a nasal polyp 
  • infertility in males
  • subfertility in females

Radiographic features

Plain film

Depend on severity of underlying bronchiectasis, findings include bronchial wall thickening, bronchial dilatation with loss of normal peripheral tapering:

  • predilection to involve the right middle, lingular segment of the left upper lobe and the lower lobes
  • mucus plugs maybe visible, finger in glove sign
  • consolidation
  • situs abnormality, i.e situs inversus
CT

CT tends to demonstrate bronchiectasis which may be variable in severity. However, changes are much milder than incystic fibrosis 4. The morphology of bronchiectasis can be tubular/cylindrical or saccular/cystic.

In addition, CT demonstrates:

Differential diagnosis

Situs abnormality with associated lower lobe bronchiectasis should prompt the diagnosis of Kartagener syndrome. However, there is a differential:

History and etymology

Manes Kartagener, a Zurich pulmonologist who first reported the clinical triad  of sinusitis, bronchiectasis, and situs inversus inversus in 19333. It was not until 1970s, Bjorn Afzelius, an ultrastructuralist, noted the associated infertility in male. Afzelius noted the diversity of structural structural defects which can affect the dynein arms and/or radial radial spokes of the sperm tail 3.Further work was undertaken by Jennifer Jennifer Sturgess, an ultrastructuralist ultrastructuralist from Toronto who identified the radial spoke defect as a common feature of Kartageners syndrome and immotile cilia syndrome. She also also contributed to research in cystic fibrosis which shares clinical similarity to primary ciliary dyskinesia.   

See also

  • -<p><strong>Kartagener syndrome</strong> is a subset of <a href="/articles/primary-ciliary-dyskinesia">primary ciliary dyskinesia</a>, an autosomal recessive condition characterised by abnormal ciliary structure and/or function leading impaired mucociliary clearance. </p><h4>Epidemiology</h4><p>The prevalence of primary ciliary dyskinesia is approximately 1 in 12,000-60,000 <sup>5</sup>. Approximately 50% of patient with primary ciliary dyskinesia have Kartagener syndrome / situs abnormality. No gender predilection is recognised. </p><h4>Clinical presentation</h4><p>Kartagener syndrome is characterised by the clinical triad of <sup>1</sup></p><ul>
  • +<p><strong>Kartagener syndrome</strong> is a subset of <a href="/articles/primary-ciliary-dyskinesia">primary ciliary dyskinesia</a>, an autosomal recessive condition characterised by abnormal ciliary structure and/or function, leading to impaired mucociliary clearance. </p><h4>Epidemiology</h4><p>The prevalence of primary ciliary dyskinesia is approximately 1 in 12,000-60,000 <sup>5</sup>. Approximately 50% of patient with primary ciliary dyskinesia have Kartagener syndrome / situs abnormality. No gender predilection is recognised. </p><h4>Clinical presentation</h4><p>Kartagener syndrome is characterised by the clinical triad of <sup>1</sup></p><ul>
  • -</ul><h5>CT</h5><p>CT tends to demonstrate bronchiectasis which may be variable in severity. However, changes are much milder than in <a href="/articles/cystic-fibrosis">cystic fibrosis</a> <sup>4</sup>. The morphology of bronchiectasis can be tubular/cylindrical or saccular/cystic.</p><p>In addition, CT demonstrates:</p><ul>
  • +</ul><h5>CT</h5><p>CT tends to demonstrate bronchiectasis which may be variable in severity. However, changes are much milder than in <a href="/articles/cystic-fibrosis">cystic fibrosis</a> <sup>4</sup>. The morphology of bronchiectasis can be tubular/cylindrical or saccular/cystic.</p><p>In addition, CT demonstrates:</p><ul>
  • -</ul><h4>History and etymology</h4><p><strong>Manes Kartagener</strong>, a Zurich pulmonologist who first reported the clinical triad  of sinusitis, bronchiectasis, and situs inversus in 1933 <sup>3</sup>. It was not until 1970s, Bjorn Afzelius, an ultrastructuralist, noted the associated infertility in male. Afzelius noted the diversity of structural defects which can affect the dynein arms and/or radial spokes of the sperm tail <sup>3</sup>.<sup> </sup>Further work was undertaken by Jennifer Sturgess, an ultrastructuralist from Toronto who identified the radial spoke defect as a common feature of Kartageners syndrome and immotile cilia syndrome. She also contributed to research in cystic fibrosis which shares clinical similarity to primary ciliary dyskinesia.   </p><h4>See also</h4><ul>
  • +</ul><h4>History and etymology</h4><p><strong>Manes Kartagener</strong>, a Zurich pulmonologist who first reported the clinical triad  of sinusitis, bronchiectasis, and situs inversus in 1933 <sup>3</sup>. It was not until 1970s, Bjorn Afzelius, an ultrastructuralist, noted the associated infertility in male. Afzelius noted the diversity of structural defects which can affect the dynein arms and/or radial spokes of the sperm tail <sup>3</sup>.<sup> </sup>Further work was undertaken by Jennifer Sturgess, an ultrastructuralist from Toronto who identified the radial spoke defect as a common feature of Kartageners syndrome and immotile cilia syndrome. She also contributed to research in cystic fibrosis which shares clinical similarity to primary ciliary dyskinesia.   </p><h4>See also</h4><ul>

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