Managing Gitelman Syndrome: Socioeconomic Barriers and Clinical Outcomes

Gitelman syndrome (GS) is a rare autosomal recessive renal tubulopathy characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria due to mutations in the SLC12A3 gene. This case report presents a 54-year-old African American female with near syncope and palpitations. The patient had a history of intermittent palpitations and generalized anxiety disorder and was previously diagnosed with GS. On presentation, the patient exhibited symptoms of severe hypokalemia and hypomagnesemia, attributed to medication non-adherence. Laboratory tests confirmed critically low potassium and magnesium levels, with elevated urine sodium and chloride. Treatment was initiated with oral and intravenous potassium and magnesium, leading to the normalization of electrolyte levels. This case highlights the challenges of managing GS, particularly in patients facing socioeconomic barriers that impede medication adherence and healthcare access. Personalized patient education, combined with comprehensive healthcare resources, is essential to mitigate complications and improve long-term outcomes in such cases.

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Publication Details

Journal
Kidney and Dialysis
Published
2025-05-19
DOI
https://doi.org/10.3390/kidneydial5020021
Citations
1
Primary Topic
Hormonal Regulation and Hypertension
Type
article
Field-Weighted Citation Impact
1.29
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Managing Gitelman Syndrome: Socioeconomic Barriers and Clinical Outcomes

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article

Managing Gitelman Syndrome: Socioeconomic Barriers and Clinical Outcomes

Seyed Omid Mohammadi, Alexis Bolds, Amirmohammad Shafiee, Ravi Siripurapu, Suresh Kankanala
article en
1 citations

Abstract

Gitelman syndrome (GS) is a rare autosomal recessive renal tubulopathy characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria due to mutations in the SLC12A3 gene. This case report presents a 54-year-old African American female with near syncope and palpitations. The patient had a history of intermittent palpitations and generalized anxiety disorder and was previously diagnosed with GS. On presentation, the patient exhibited symptoms of severe hypokalemia and hypomagnesemia, attributed to medication non-adherence. Laboratory tests confirmed critically low potassium and magnesium levels, with elevated urine sodium and chloride. Treatment was initiated with oral and intravenous potassium and magnesium, leading to the normalization of electrolyte levels. This case highlights the challenges of managing GS, particularly in patients facing socioeconomic barriers that impede medication adherence and healthcare access. Personalized patient education, combined with comprehensive healthcare resources, is essential to mitigate complications and improve long-term outcomes in such cases.

Kidney and DialysisVol. 5(2)
Texas Christian University (US)
Openalex Percentile: Top 19%
Hormonal Regulation and Hypertension
1.29
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