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A Rare Presentation of Adult-Onset Bartter Syndrome: A Case Report

Bartter syndrome is a rare, salt-wasting tubulopathy with impaired ion reabsorption in the ascending limb of the loop of Henle, which results in hypokalemia, hypochloremia, and hypercalciuria. It usually presents in neonates, with vomiting, dehydration, and failure to thrive. It results from mutatio...

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Autores principales: Alla, Deekshitha, Kesineni, Meghana Krishna, Vempati, Roopeessh, Patel, Hinal, Menezes, Shenelle, Alla, Sai Santhosha Mrudula, Patel, Devkumar, Gupta, Srajan, Patel, Krish, Pradeep, Anju
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10099506/
https://www.ncbi.nlm.nih.gov/pubmed/37065350
http://dx.doi.org/10.7759/cureus.36120
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author Alla, Deekshitha
Kesineni, Meghana Krishna
Vempati, Roopeessh
Patel, Hinal
Menezes, Shenelle
Alla, Sai Santhosha Mrudula
Patel, Devkumar
Gupta, Srajan
Patel, Krish
Pradeep, Anju
author_facet Alla, Deekshitha
Kesineni, Meghana Krishna
Vempati, Roopeessh
Patel, Hinal
Menezes, Shenelle
Alla, Sai Santhosha Mrudula
Patel, Devkumar
Gupta, Srajan
Patel, Krish
Pradeep, Anju
author_sort Alla, Deekshitha
collection PubMed
description Bartter syndrome is a rare, salt-wasting tubulopathy with impaired ion reabsorption in the ascending limb of the loop of Henle, which results in hypokalemia, hypochloremia, and hypercalciuria. It usually presents in neonates, with vomiting, dehydration, and failure to thrive. It results from mutations in several genes, including KCNJ1, CLCNKB, CLCNKA, BSND, and ROMK, which encode ion transporters. We report a rare presentation of adult-onset Bartter syndrome. In this case, a 27-year-old man presented to the hospital with upper and lower limb weakness. Bartter syndrome was suspected based on serum electrolytes assessment and arterial blood gas analysis. The patient was initiated on potassium chloride (KCL) infusion and potassium chloride syrup to correct hypokalemia.
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spelling pubmed-100995062023-04-14 A Rare Presentation of Adult-Onset Bartter Syndrome: A Case Report Alla, Deekshitha Kesineni, Meghana Krishna Vempati, Roopeessh Patel, Hinal Menezes, Shenelle Alla, Sai Santhosha Mrudula Patel, Devkumar Gupta, Srajan Patel, Krish Pradeep, Anju Cureus Internal Medicine Bartter syndrome is a rare, salt-wasting tubulopathy with impaired ion reabsorption in the ascending limb of the loop of Henle, which results in hypokalemia, hypochloremia, and hypercalciuria. It usually presents in neonates, with vomiting, dehydration, and failure to thrive. It results from mutations in several genes, including KCNJ1, CLCNKB, CLCNKA, BSND, and ROMK, which encode ion transporters. We report a rare presentation of adult-onset Bartter syndrome. In this case, a 27-year-old man presented to the hospital with upper and lower limb weakness. Bartter syndrome was suspected based on serum electrolytes assessment and arterial blood gas analysis. The patient was initiated on potassium chloride (KCL) infusion and potassium chloride syrup to correct hypokalemia. Cureus 2023-03-14 /pmc/articles/PMC10099506/ /pubmed/37065350 http://dx.doi.org/10.7759/cureus.36120 Text en Copyright © 2023, Alla et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Internal Medicine
Alla, Deekshitha
Kesineni, Meghana Krishna
Vempati, Roopeessh
Patel, Hinal
Menezes, Shenelle
Alla, Sai Santhosha Mrudula
Patel, Devkumar
Gupta, Srajan
Patel, Krish
Pradeep, Anju
A Rare Presentation of Adult-Onset Bartter Syndrome: A Case Report
title A Rare Presentation of Adult-Onset Bartter Syndrome: A Case Report
title_full A Rare Presentation of Adult-Onset Bartter Syndrome: A Case Report
title_fullStr A Rare Presentation of Adult-Onset Bartter Syndrome: A Case Report
title_full_unstemmed A Rare Presentation of Adult-Onset Bartter Syndrome: A Case Report
title_short A Rare Presentation of Adult-Onset Bartter Syndrome: A Case Report
title_sort rare presentation of adult-onset bartter syndrome: a case report
topic Internal Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10099506/
https://www.ncbi.nlm.nih.gov/pubmed/37065350
http://dx.doi.org/10.7759/cureus.36120
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