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Concept information

Preferred term

Gitelman Syndrome  

Type

  • Topical Descriptor

Entry terms

  • 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's
  • Tubular Hypomagnesemia Hypokalemia with Hypocalcuria
  • Tubular Hypomagnesemia-Hypokalemia with Hypocalcuria

Scope note

  • 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.

History note

  • 2007

In other languages

URI

http://www.yso.fi/onto/mesh/D053579

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