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... > Urogenital Diseases > Female Urogenital Diseases and Pregnancy Complications > Female Urogenital Diseases > Urologic Diseases > Kidney Diseases > Renal Tubular Transport, Inborn Errors > Gitelman Syndrome
... > Urogenital Diseases > Male Urogenital Diseases > Urologic Diseases > Kidney Diseases > Renal Tubular Transport, Inborn Errors > Gitelman Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Renal Tubular Transport, Inborn Errors > Gitelman Syndrome
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Renal Tubular Transport, Inborn Errors > Gitelman Syndrome

Preferred term

Gitelman Syndrome  

Type

  • mesh:Descriptor

Definition

  • 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.

Broader concept

Related concepts

Entry terms

  • Familial Hypokalemia-Hypomagnesemia
  • Gitelman's Syndrome
  • 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
  • Tubular Hypomagnesemia-Hypokalemia with Hypocalcuria

Allowable Qualifier(s)

In other languages

URI

http://data.loterre.fr/ark:/67375/JVR-G0F3BGC7-2

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RDF/XML TURTLE JSON-LD Created 7/5/06, last modified 6/30/21