<abstract xmlns="http://www.w3.org/1999/xhtml">

<p>Gitelman's syndrome (GS) is a variant of classical Bartter's syndrome (BS) in adults characterized by hypokalemic metabolic alkalosis, hypocalciuria (daily excretion &lt;2.0 mg/kg body weight), hypomagnesaemia (&lt;1.5 mg/dl), together with a normal to low blood pressure. In 1996, Simon et al. reported complete linkage between the syndrome and the thiazide-sensitive sodium chloride coporter (TSC) on chromosome 16q13 (Human Gene Mapping Workshop-approved symbol: SLCA3). Other metabolic features of GS include normonatremia, hyperuricemia, normocalcemia, increased plasma renin and aldosterone/potassium ratio, and inappropriately high renal potassium, magnesium, and chloride excretion. In this paper, we describe two affected patients who developed severe hyponatremia and hypouricemia. To the best of our knowledge, this complication has not been described previously.</p>
</abstract>

Gitelman's syndrome (GS) is a variant of classical Bartter's syndrome (BS) in adults characterized by hypokalemic metabolic alkalosis, hypocalciuria (daily excretion <2.0 mg/kg body weight), hypomagnesaemia (<1.5 mg/dl), together with a normal to low blood pressure. In 1996, Simon et al. reported complete linkage between the syndrome and the thiazide-sensitive sodium chloride coporter (TSC) on chromosome 16q13 (Human Gene Mapping Workshop-approved symbol: SLCA3). Other metabolic features of GS include normonatremia, hyperuricemia, normocalcemia, increased plasma renin and aldosterone/potassium ratio, and inappropriately high renal potassium, magnesium, and chloride excretion. In this paper, we describe two affected patients who developed severe hyponatremia and hypouricemia. To the best of our knowledge, this complication has not been described previously.

Hyponatremia: A Rare Complication of Gitelmans's Syndrome - Literature Review and Clinical Case

Carol Davila University of Medicine and Pharmacy

Internal Medicine

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Gitelman's syndrome (GS) is a variant of classical Bartter's syndrome (BS) in adults characterized by hypokalemic metabolic alkalosis, hypocalciuria (daily...

Hyponatremia: A Rare Complication of Gitelmans's Syndrome - Literature Review and Clinical Case

Pubblicato online: 06 gen 2024

Pagine: 65 - 73

DOI: https://doi.org/10.2478/inmed-2023-0269

Parole chiave
Gitelman's syndrome, hyponatremia, hypouricemia

© 2023 Marilena Stoian, published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Hyponatremia: A Rare Complication of Gitelmans's Syndrome - Literature Review and Clinical Case

Pubblicato online: 06 gen 2024

Pagine: 65 - 73

DOI: https://doi.org/10.2478/inmed-2023-0269

Parole chiaveGitelman's syndrome, hyponatremia, hypouricemia

© 2023 Marilena Stoian, published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Parole chiave
Gitelman's syndrome, hyponatremia, hypouricemia