The concomitance of Gitelman syndrome with nephrocalcinosis in a case followed-up for primary biliary cirrhosis
Melya Pelin Kırık, Can Hüzmeli
Abstract
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Melya Pelin Kırık, Can Hüzmeli
Abstract
Open-access reader
Gitelman syndrome is a rare autosomal recessive renal tubular disease characterized by hypokalemia, metabolic alkalosis, and hypocalciuria. The syndrome develops as a result of various mutations in the SLC12A3 gene. This manuscript aims to highlight the association of Gitelman Syndrome with nephrocalcinosis in a 48-year-old female patient who presented with pain and cramps in the lower limbs.
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Gitelman syndrome is a rare autosomal recessive renal tubular disease characterized by hypokalemia, metabolic alkalosis, and hypocalciuria. The syndrome develops as a result of various mutations in the SLC12A3 gene. This manuscript aims to highlight the association of Gitelman Syndrome with nephrocalcinosis in a 48-year-old female patient who presented with pain and cramps in the lower limbs.
Key concepts: Hypocalciuria, Gitelman syndrome, Nephrocalcinosis, Metabolic alkalosis, Hypokalemia, Medicine, Internal medicine, Tetany