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The concomitance of Gitelman syndrome with nephrocalcinosis in a case followed-up for primary biliary cirrhosis

Journal: Ukrainian Journal of Nephrology and Dialysis (Vol.3, No. 79)

Publication Date:

Authors : ;

Page : 3-6

Keywords : Gitelman syndrome; primary biliary cirrhosis; nephrocalcinosis; hypokalemia;

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Abstract

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.

Last modified: 2023-10-16 20:20:21