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.
Publisher
Institute of Nephrology of the National Academy of Medical Sciences
Subject
Biochemistry (medical),Urology,Nephrology,Immunology and Allergy