Related Experiment Video
Updated: Dec 11, 2025

Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders
Published on: September 4, 2011
Gitelman Syndrome Presenting with Hypomagnesemia, Hypokalemia and Hypocalciuria: A Case Report
Mehmet Uzunlulu1, Betul Dumanoglu1
1Istanbul Medeniyet University Goztepe Training and Researh Hospital, Department of Internal Medicine, Istanbul, Turkey.
Abstract:
Gitelman syndrome is a a rarely seen autosomal recessive renal tubulopathy characterized by inherited hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. The diagnosis of Gitelman syndrome is usually established during adolescence, but is also observed in childhood and even in the adulthood period. In this case report, we presented a 19-year-old male patient who was diagnosed as Gitelman Syndrome and admitted to the hospital with symptoms of muscle weakness, cramps and weakness.
Related Concept Videos
Inborn Errors of Metabolism
Chronic Kidney Disease II: Clinical Manifestations
Glucose Transporters
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Urinary Tract Calculi II: Pathophysiology and Clinical Manifestations
Urinary Tract Calculi I: Introduction
Antihypertensive Drugs: Potassium-Sparing Diuretics

