Case Report: A Rare Case of Refractory Hypokalemia -Gitelman Syndrome

  • Unique Paper ID: 173343
  • Volume: 11
  • Issue: 10
  • PageNo: 1-2
  • Abstract:
  • Gitelman syndrome (GS) is a rare autosomal recessive renal tubular disorder characterized by hypokalemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria. It results from mutations in the SLC12A3 gene, which encodes the thiazide-sensitive sodium-chloride cotransporter (NCC) in the distal convoluted tubule. Here, we report a case of a young adult presenting with recurrent muscle cramps and fatigue, ultimately diagnosed with Gitelman syndrome.

Copyright & License

Copyright © 2025 Authors retain the copyright of this article. This article is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

BibTeX

@article{173343,
        author = {Dr. AMAN AGGARWAL and Dr. V.A Kothiwale},
        title = {Case Report: A Rare Case of Refractory Hypokalemia -Gitelman Syndrome},
        journal = {International Journal of Innovative Research in Technology},
        year = {2025},
        volume = {11},
        number = {10},
        pages = {1-2},
        issn = {2349-6002},
        url = {https://ijirt.org/article?manuscript=173343},
        abstract = {Gitelman syndrome (GS) is a rare autosomal recessive renal tubular disorder characterized by hypokalemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria. It results from mutations in the SLC12A3 gene, which encodes the thiazide-sensitive sodium-chloride cotransporter (NCC) in the distal convoluted tubule. Here, we report a case of a young adult presenting with recurrent muscle cramps and fatigue, ultimately diagnosed with Gitelman syndrome.},
        keywords = {},
        month = {February},
        }

Cite This Article

  • ISSN: 2349-6002
  • Volume: 11
  • Issue: 10
  • PageNo: 1-2

Case Report: A Rare Case of Refractory Hypokalemia -Gitelman Syndrome

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