2022Indian Journal of NephrologyOpen access

Gitelman syndrome presenting with cerebellar ataxia and tetany

Shalini Pandya, Shalin Shah, Sonal Dalal

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Abstract

Gitelman syndrome (GS) is salt-losing tubulopathy characterized by hypokalemia, hypomagnesemia, hypocalciuria, hyperreninemia, hyperaldosteronemia, metabolic alkalosis, and rarely hypocalcemia. Here, we describe the case of a 54-year-old man who presented with cerebellar signs and tetany. On investigation, he was found to have hypokalemia, hypocalcemia, hypomagnesemia, metabolic alkalosis, and high urinary chloride levels. On correction of metabolic parameters, he became asymptomatic. In cases of unexplained recurrent hypokalemia, hypocalcemia and hypomagnesemia, the diagnosis of GS should be considered.

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What this paper is about

Gitelman syndrome (GS) is salt-losing tubulopathy characterized by hypokalemia, hypomagnesemia, hypocalciuria, hyperreninemia, hyperaldosteronemia, metabolic alkalosis, and rarely hypocalcemia. Here, we describe the case of a 54-year-old man who presented with cerebellar signs and tetany. On investigation, he was found to have hypokalemia, hypocalcemia, hypomagnesemia, metabolic alkalosis, and high urinary chloride levels. On correction of metabolic parameters, he became asymptomatic. In cases of unexplained recurrent hypokalemia, hypocalcemia and hypomagnesemia, the diagnosis of GS should be considered.

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Available abstract

Gitelman syndrome (GS) is salt-losing tubulopathy characterized by hypokalemia, hypomagnesemia, hypocalciuria, hyperreninemia, hyperaldosteronemia, metabolic alkalosis, and rarely hypocalcemia. Here, we describe the case of a 54-year-old man who presented with cerebellar signs and tetany. On investigation, he was found to have hypokalemia, hypocalcemia, hypomagnesemia, metabolic alkalosis, and high urinary chloride levels. On correction of metabolic parameters, he became asymptomatic. In cases of unexplained recurrent hypokalemia, hypocalcemia and hypomagnesemia, the diagnosis of GS should be considered.

Key concepts: Hypomagnesemia, Hypocalciuria, Hypokalemia, Medicine, Tetany, Metabolic alkalosis, Gitelman syndrome, Internal medicine

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