Last update 08 May 2025

Gitelman Syndrome

Basic Info

Synonyms
Familial Hypokalemia Hypomagnesemia, Familial Hypokalemia-Hypomagnesemia, Familial hypokalaemia-hypomagnesaemia
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Introduction
An inherited renal disorder characterized by defective NaCl reabsorption in the convoluted DISTAL KIDNEY TUBULE leading to HYPOKALEMIA. In contrast with BARTTER SYNDROME, Gitelman syndrome includes hypomagnesemia and normocalcemic hypocalciuria, and is caused by mutations in the thiazide-sensitive SODIUM-POTASSIUM-CHLORIDE SYMPORTERS.

Analysis

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