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A case of Kartagener’s syndrome: Importance of early diagnosis and treatment
Kartagener’s syndrome is a very rare congenital malformation comprising of a classic triad of sinusitis, situs inversus and bronchiectasis. Primary ciliary dyskinesia is a genetic disorder with manifestations present from early life and this distinguishes it from acquired mucociliary disorders. Appr...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Medknow Publications & Media Pvt Ltd
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3758738/ https://www.ncbi.nlm.nih.gov/pubmed/24019633 http://dx.doi.org/10.4103/0971-6866.116107 |
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author | Gupta, Sanjay Handa, Kumud K. Kasliwal, Ravi R. Bajpai, Pankaj |
author_facet | Gupta, Sanjay Handa, Kumud K. Kasliwal, Ravi R. Bajpai, Pankaj |
author_sort | Gupta, Sanjay |
collection | PubMed |
description | Kartagener’s syndrome is a very rare congenital malformation comprising of a classic triad of sinusitis, situs inversus and bronchiectasis. Primary ciliary dyskinesia is a genetic disorder with manifestations present from early life and this distinguishes it from acquired mucociliary disorders. Approximately one half of patients with primary ciliary dyskinesia have situs inversus and, thus are having Kartagener syndrome. We present a case of 12 year old boy with sinusitis, situs inversus and bronchiectasis. The correct diagnosis of this rare congenital autosomal recessive disorder in early life is important in the overall prognosis of the syndrome, as many of the complications can be prevented if timely management is instituted, as was done in this in this case. |
format | Online Article Text |
id | pubmed-3758738 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-37587382013-09-09 A case of Kartagener’s syndrome: Importance of early diagnosis and treatment Gupta, Sanjay Handa, Kumud K. Kasliwal, Ravi R. Bajpai, Pankaj Indian J Hum Genet Case Report Kartagener’s syndrome is a very rare congenital malformation comprising of a classic triad of sinusitis, situs inversus and bronchiectasis. Primary ciliary dyskinesia is a genetic disorder with manifestations present from early life and this distinguishes it from acquired mucociliary disorders. Approximately one half of patients with primary ciliary dyskinesia have situs inversus and, thus are having Kartagener syndrome. We present a case of 12 year old boy with sinusitis, situs inversus and bronchiectasis. The correct diagnosis of this rare congenital autosomal recessive disorder in early life is important in the overall prognosis of the syndrome, as many of the complications can be prevented if timely management is instituted, as was done in this in this case. Medknow Publications & Media Pvt Ltd 2013 /pmc/articles/PMC3758738/ /pubmed/24019633 http://dx.doi.org/10.4103/0971-6866.116107 Text en Copyright: © Indian Journal of Human Genetics http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Gupta, Sanjay Handa, Kumud K. Kasliwal, Ravi R. Bajpai, Pankaj A case of Kartagener’s syndrome: Importance of early diagnosis and treatment |
title | A case of Kartagener’s syndrome: Importance of early diagnosis and treatment |
title_full | A case of Kartagener’s syndrome: Importance of early diagnosis and treatment |
title_fullStr | A case of Kartagener’s syndrome: Importance of early diagnosis and treatment |
title_full_unstemmed | A case of Kartagener’s syndrome: Importance of early diagnosis and treatment |
title_short | A case of Kartagener’s syndrome: Importance of early diagnosis and treatment |
title_sort | case of kartagener’s syndrome: importance of early diagnosis and treatment |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3758738/ https://www.ncbi.nlm.nih.gov/pubmed/24019633 http://dx.doi.org/10.4103/0971-6866.116107 |
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