Disease or Syndrome
Gitelman syndrome
Subclass of:
Renal Tubular Transport, Inborn Errors
Definitions related to gitelman syndrome:
  • An inherited disorder caused by mutations in the SLC12A3 gene. It is characterized by deficient reabsorption of electrolytes in the distal convoluted tubules of the kidneys. It results in hypochloremic metabolic alkalosis, hypokalemia, hypocalciuria, and hypomagnesemia.
    NCI Thesaurus
    U.S. National Cancer Institute, 2021
  • 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.
    NLM Medical Subject Headings
    U.S. National Library of Medicine, 2021
  • Gitelman syndrome is a kidney function disorder that causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium. It is usually diagnosed during late childhood or adulthood. More common symptoms include fatigue, salt craving, thirst, frequent urination, muscle cramping, muscle weakness,...
    NIH Genetic and Rare Diseases
    National Center for Advancing Translational Sciences
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