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.
Synonyms: Hypomagnesemia-Hypokalemia, Primary Renotubular, with Hypocalciuria, Potassium and Magnesium Depletion, Familial Hypokalemia Hypomagnesemia, Hypokalemia-Hypomagnesemia, Primary Renotubular, with Hypocalciuria, Syndrome, Gitelman, Primary Renotubular, Hypomagnesemia-Hypokalemia with Hypocalciuria, Tubular Hypomagnesemia Hypokalemia with Hypocalcuria, Hypokalemia-Hypomagnesemia, Familial, Primary Renotubular, Hypokalemia-Hypomagnesemia with Hypocalciuria, Familial Hypokalemia-Hypomagnesemia, Tubular Hypomagnesemia-Hypokalemia with Hypocalcuria, Gitelman Syndrome, Syndrome, Gitelman's, Gitelman's Syndrome
Instance information
2007
D053579