Cargando…
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...
Autores principales: | , , , , , , , , , |
---|---|
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 |
_version_ | 1785025067417075712 |
---|---|
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. |
format | Online Article Text |
id | pubmed-10099506 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT alladeekshitha ararepresentationofadultonsetbarttersyndromeacasereport AT kesinenimeghanakrishna ararepresentationofadultonsetbarttersyndromeacasereport AT vempatiroopeessh ararepresentationofadultonsetbarttersyndromeacasereport AT patelhinal ararepresentationofadultonsetbarttersyndromeacasereport AT menezesshenelle ararepresentationofadultonsetbarttersyndromeacasereport AT allasaisanthoshamrudula ararepresentationofadultonsetbarttersyndromeacasereport AT pateldevkumar ararepresentationofadultonsetbarttersyndromeacasereport AT guptasrajan ararepresentationofadultonsetbarttersyndromeacasereport AT patelkrish ararepresentationofadultonsetbarttersyndromeacasereport AT pradeepanju ararepresentationofadultonsetbarttersyndromeacasereport AT alladeekshitha rarepresentationofadultonsetbarttersyndromeacasereport AT kesinenimeghanakrishna rarepresentationofadultonsetbarttersyndromeacasereport AT vempatiroopeessh rarepresentationofadultonsetbarttersyndromeacasereport AT patelhinal rarepresentationofadultonsetbarttersyndromeacasereport AT menezesshenelle rarepresentationofadultonsetbarttersyndromeacasereport AT allasaisanthoshamrudula rarepresentationofadultonsetbarttersyndromeacasereport AT pateldevkumar rarepresentationofadultonsetbarttersyndromeacasereport AT guptasrajan rarepresentationofadultonsetbarttersyndromeacasereport AT patelkrish rarepresentationofadultonsetbarttersyndromeacasereport AT pradeepanju rarepresentationofadultonsetbarttersyndromeacasereport |