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Paradoxical hypertension and salt wasting in Type II Bartter syndrome

Ante/neonatal Bartter syndrome (BS) is a rare hereditary disorder. It is characterized by renal salt wasting, hypokalaemic metabolic alkalosis, high renin and aldosterone but normal blood pressure. We report a low birth weight newborn baby who presented with repeated apnoea shortly after birth as we...

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Autores principales: Chan, Winnie Kwai-yu, To, Ka Fai, Tong, Joanna H. M., Law, Chi Wai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4400504/
https://www.ncbi.nlm.nih.gov/pubmed/26069767
http://dx.doi.org/10.1093/ckj/sfs026
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author Chan, Winnie Kwai-yu
To, Ka Fai
Tong, Joanna H. M.
Law, Chi Wai
author_facet Chan, Winnie Kwai-yu
To, Ka Fai
Tong, Joanna H. M.
Law, Chi Wai
author_sort Chan, Winnie Kwai-yu
collection PubMed
description Ante/neonatal Bartter syndrome (BS) is a rare hereditary disorder. It is characterized by renal salt wasting, hypokalaemic metabolic alkalosis, high renin and aldosterone but normal blood pressure. We report a low birth weight newborn baby who presented with repeated apnoea shortly after birth as well as hyponatraemia, hypochloraemia, hyperkalaemia and metabolic acidosis. Her biochemical features mimicked pseudohypoaldosteronism but with initial hypertension, which had not been described in BS. Her subsequent genetic study confirmed two novel heterozygous mutations in the Exon 5 of KCNJ1 compatible with Type II BS.
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spelling pubmed-44005042015-06-11 Paradoxical hypertension and salt wasting in Type II Bartter syndrome Chan, Winnie Kwai-yu To, Ka Fai Tong, Joanna H. M. Law, Chi Wai Clin Kidney J Original Contributions Ante/neonatal Bartter syndrome (BS) is a rare hereditary disorder. It is characterized by renal salt wasting, hypokalaemic metabolic alkalosis, high renin and aldosterone but normal blood pressure. We report a low birth weight newborn baby who presented with repeated apnoea shortly after birth as well as hyponatraemia, hypochloraemia, hyperkalaemia and metabolic acidosis. Her biochemical features mimicked pseudohypoaldosteronism but with initial hypertension, which had not been described in BS. Her subsequent genetic study confirmed two novel heterozygous mutations in the Exon 5 of KCNJ1 compatible with Type II BS. Oxford University Press 2012-06 2012-03-29 /pmc/articles/PMC4400504/ /pubmed/26069767 http://dx.doi.org/10.1093/ckj/sfs026 Text en © The Author 2012. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Original Contributions
Chan, Winnie Kwai-yu
To, Ka Fai
Tong, Joanna H. M.
Law, Chi Wai
Paradoxical hypertension and salt wasting in Type II Bartter syndrome
title Paradoxical hypertension and salt wasting in Type II Bartter syndrome
title_full Paradoxical hypertension and salt wasting in Type II Bartter syndrome
title_fullStr Paradoxical hypertension and salt wasting in Type II Bartter syndrome
title_full_unstemmed Paradoxical hypertension and salt wasting in Type II Bartter syndrome
title_short Paradoxical hypertension and salt wasting in Type II Bartter syndrome
title_sort paradoxical hypertension and salt wasting in type ii bartter syndrome
topic Original Contributions
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4400504/
https://www.ncbi.nlm.nih.gov/pubmed/26069767
http://dx.doi.org/10.1093/ckj/sfs026
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