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