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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...

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Autores principales: Gupta, Sanjay, Handa, Kumud K., Kasliwal, Ravi R., Bajpai, Pankaj
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2013
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.
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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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