Kartagener syndrome
Updates to Article Attributes
Kartagener syndrome is a subset of primary ciliary dyskinesia, an autosomal recessive condition characterised by an abnormal ciliary structure or function, leading to impaired mucociliary clearance.
Epidemiology
The prevalence of primary ciliary dyskinesia is approximately 1 in 12,000-60,000 5. Approximately 50% of patient with primary ciliary dyskinesia have Kartagener syndrome/situs / situs abnormality. No gender predilection is recognised.
Clinical presentation
Kartagener syndrome is characterised by the clinical triad of 1:
Other features include:
- telecanthus: widened interpupillary distance by a nasal polyp
- infertility in males
- subfertility in females
Radiographic features
Plain radiograph
Chest radiographic findings depend on the severity of underlying bronchiectasis. Findings may include bronchial wall thickening, bronchial dilatation with the loss of normal peripheral tapering:
- predilection to involve the right middle, lingular segment of the left upper lobe and the lower lobes
- mucus plugs may be 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 in cystic fibrosis 4. The morphology of bronchiectasis can be tubular/cylindrical or saccular/cystic. Also, CT demonstrates:
- consolidation
- mucocoele, impacted mucus in bronchioles
- tree-in-bud pattern or centrilobular nodules may be encountered with mucus impaction and endobronchial spread of infection
- mosaic perfusion/air trapping as ancillary findings
- eventual scarring may result from recurrent infection, requiring pulmonary resection surgery
Differential diagnosis
Situs abnormality in association with associated lower lobe bronchiectasis should prompt the diagnosis of Kartagener syndrome. However, there is
For other causes of lower-lobe bronchiectasis which are independent of a differential:situs abnormality, see page on lower lobe bronchiectasis.
-
hereditary impaired mucociliary clearance -
impaired immunity -
hypersensitivity and immune reaction
History and etymology
Manes Kartagener (1897-1975) was a Zurich pulmonologist who first reported the clinical triad of sinusitis, bronchiectasis, and situs inversus in 1933 3,7. ItHe was not untilunaware of male infertility as a phenotype of the disease 8.
In the 1970s, Bjorn Afzelius, a cell biologist with an ultrastructuralist, noted the associated infertilityinterest in males. Afzeliuselectron microscopy, noted the diversity of structural defects which can affect the dynein arms and/or radial spokes of the tail of immotile sperm tail 3. While investigating rare cases of men with immotile spermatozoa, he noted a frequency of situs inversus and dysfunction of other ciliated organs 8. It was Afzelius who made the connection with the syndrome previously described by Karagener.
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.
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 an abnormal ciliary structure 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>- +<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 an abnormal ciliary structure 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><h4>Differential diagnosis</h4><p>Situs abnormality with associated lower lobe bronchiectasis should prompt the diagnosis of Kartagener syndrome. However, there is a differential:</p><ul>-<li>hereditary impaired mucociliary clearance<ul>-<li><a href="/articles/cystic-fibrosis">cystic fibrosis</a></li>-<li><a href="/articles/young-syndrome-1">Young syndrome</a></li>-</ul>-</li>-<li>impaired immunity<ul>-<li><a href="/articles/primary-immunodeficiency-syndrome">primary immunodeficiency syndrome</a></li>-<li><a href="/articles/hivaids">acquired immunodeficiency (AIDS)</a></li>-</ul>-</li>-<li>hypersensitivity and immune reaction<ul>-<li><a href="/articles/abpa">ABPA</a></li>-<li><a href="/articles/graft-versus-host-disease">graft versus host disease</a></li>-</ul>-</li>-</ul><h4>History and etymology</h4><p><strong>Manes Kartagener</strong> was a Zurich pulmonologist who first reported the clinical triad of sinusitis, bronchiectasis, and situs inversus in 1933 <sup>3</sup>. It was not until the 1970s, Bjorn Afzelius, an ultrastructuralist, noted the associated infertility in males. 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>Differential diagnosis</h4><p>Situs abnormality in association with lower lobe bronchiectasis should prompt the diagnosis of Kartagener syndrome.</p><p>For other causes of lower-lobe bronchiectasis which are independent of a situs abnormality, see page on <a title="Lower lobe bronchiectasis" href="/articles/lower-lobe-bronchiectasis">lower lobe bronchiectasis</a>.</p><h4>History and etymology</h4><p><strong>Manes Kartagener</strong> (1897-1975) was a Zurich pulmonologist who first reported the clinical triad of sinusitis, bronchiectasis, and situs inversus in 1933 <sup>3,7</sup>. He was unaware of male infertility as a phenotype of the disease <sup>8</sup>.</p><p>In the 1970s, Bjorn Afzelius, a cell biologist with an interest in electron microscopy, noted the diversity of structural defects which can affect the dynein arms and/or radial spokes of the tail of immotile sperm <sup>3</sup>. While investigating rare cases of men with immotile spermatozoa, he noted a frequency of situs inversus and dysfunction of other ciliated organs <sup>8</sup>. It was Afzelius who made the connection with the syndrome previously described by Karagener.</p><p>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>
-<li><a href="/articles/allergic-bronchopulmonary-aspergillosis">ABPA</a></li>
References changed:
- 7. Portrait Manes Kartagener. <a href="http://www.kartagener-syndrom.org/index.php/pcd-ks-was-ist-das/historie">kartagener-syndrom.org</a><span class="ref_v4"></span>
- 8. Berdon WE, Willi U. Situs inversus, bronchiectasis, and sinusitis and its relation to immotile cilia: history of the diseases and their discoverers-Manes Kartagener and Bjorn Afzelius. (2004) Pediatric radiology. 34 (1): 38-42. <a href="https://doi.org/10.1007/s00247-003-1072-9">doi:10.1007/s00247-003-1072-9</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/14551758">Pubmed</a> <span class="ref_v4"></span>