Gitelman syndrome

pathology

Written by

The Information Architects of Encyclopaedia Britannica

Last updated

July 20, 2026

Quick Summary

Gitelman syndrome is a rare kidney disorder that affects the transport of sodium and chloride in the kidney tubules. This impairment leads to an imbalance of electrolytes in the body, specifically low levels of potassium and magnesium, and decreased calcium in the urine. It is a type of Bartter syndrome, caused by mutations in the SLC12A3 gene. Gitelman syndrome typically appears in late childhood or adulthood and can result in symptoms such as muscle weakness and cramps. Diagnosis involves blood and urine tests to check electrolyte levels. Treatment focuses on managing electrolyte imbalances with supplements.1

Summary created from Britannica articles using AI. AI can make mistakes, so verify using Britannica articles.

2 Britannica Sources

Ask Britannica AI about this topic

Britannica doesn't have a full article on this topic, so we've curated a list of our relevant coverage.

Bartter syndrome
Types of Bartter syndrome
Gitelman syndrome is caused by mutations in SLC12A3 (solute carrier family 12, member 3), which encodes a protein that specializes in the transport of sodium and chloride into the kidney tubules, thereby mediating the reabsorption of these electrolytes and maintaining electrolyte homeostasis.
Read More
Gitelman syndrome is caused by mutations in SLC12A3 (solute carrier family 12, member 3), which encodes a protein that specializes in the transport of sodium and chloride into the kidney tubules, thereby mediating the reabsorption of these electrolytes and maintaining electrolyte homeostasis.
Read More