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Neonatal Bartter syndrome associated with ileal atresia and cystic fibrosis
A rare case of neonatal Bartter syndrome presenting with severe hyperkalemia is reported in a preterm child born to consanguineous parents. This child also had ileal atresia, and meconium plugs were found at laparotomy. The diagnosis of cystic fibrosis was subsequently made on genetic testing. Despi...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2013
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3621238/ https://www.ncbi.nlm.nih.gov/pubmed/23580805 http://dx.doi.org/10.4103/0971-4065.107200 |
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author | Akuma, A. O. Mittal, S. K. Sambo, A. A. |
author_facet | Akuma, A. O. Mittal, S. K. Sambo, A. A. |
author_sort | Akuma, A. O. |
collection | PubMed |
description | A rare case of neonatal Bartter syndrome presenting with severe hyperkalemia is reported in a preterm child born to consanguineous parents. This child also had ileal atresia, and meconium plugs were found at laparotomy. The diagnosis of cystic fibrosis was subsequently made on genetic testing. Despite full intensive care management and surgical interventions, he died of respiratory failure after 70 days. This is the first reported case of such conglomeration of pathologies in a newborn child. Second, in highlighting this case we want clinicians to be aware that a subtype of neonatal Bartter syndrome can present with initial hyperkalemia so that an erroneous diagnosis of pseudohypoaldosteronism is not made when this is seen in combination with hyperkalemia and hyperrenin hyperaldosteronism. |
format | Online Article Text |
id | pubmed-3621238 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-36212382013-04-11 Neonatal Bartter syndrome associated with ileal atresia and cystic fibrosis Akuma, A. O. Mittal, S. K. Sambo, A. A. Indian J Nephrol Case Report A rare case of neonatal Bartter syndrome presenting with severe hyperkalemia is reported in a preterm child born to consanguineous parents. This child also had ileal atresia, and meconium plugs were found at laparotomy. The diagnosis of cystic fibrosis was subsequently made on genetic testing. Despite full intensive care management and surgical interventions, he died of respiratory failure after 70 days. This is the first reported case of such conglomeration of pathologies in a newborn child. Second, in highlighting this case we want clinicians to be aware that a subtype of neonatal Bartter syndrome can present with initial hyperkalemia so that an erroneous diagnosis of pseudohypoaldosteronism is not made when this is seen in combination with hyperkalemia and hyperrenin hyperaldosteronism. Medknow Publications & Media Pvt Ltd 2013 /pmc/articles/PMC3621238/ /pubmed/23580805 http://dx.doi.org/10.4103/0971-4065.107200 Text en Copyright: © Indian Journal of Nephrology 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 Akuma, A. O. Mittal, S. K. Sambo, A. A. Neonatal Bartter syndrome associated with ileal atresia and cystic fibrosis |
title | Neonatal Bartter syndrome associated with ileal atresia and cystic fibrosis |
title_full | Neonatal Bartter syndrome associated with ileal atresia and cystic fibrosis |
title_fullStr | Neonatal Bartter syndrome associated with ileal atresia and cystic fibrosis |
title_full_unstemmed | Neonatal Bartter syndrome associated with ileal atresia and cystic fibrosis |
title_short | Neonatal Bartter syndrome associated with ileal atresia and cystic fibrosis |
title_sort | neonatal bartter syndrome associated with ileal atresia and cystic fibrosis |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3621238/ https://www.ncbi.nlm.nih.gov/pubmed/23580805 http://dx.doi.org/10.4103/0971-4065.107200 |
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