Gitelman Syndrome

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.

Also Known As:

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; Familial Hypokalemia Hypomagnesemia; Hypokalemia-Hypomagnesemia, Familial; Syndrome, Gitelman; Syndrome, Gitelman's; Tubular Hypomagnesemia Hypokalemia with Hypocalcuria

Urogenital Diseases: 126
- Urologic Diseases: 799
  - Kidney Diseases: 12250
    - Inborn Errors Renal Tubular Transport
      - Gitelman Syndrome: 449
- Female Urogenital Diseases and Pregnancy Complications
  - Female Urogenital Diseases
    - Urologic Diseases: 799
      - Kidney Diseases: 12250
        Inborn Errors Renal Tubular Transport
        Gitelman Syndrome: 449
- Male Urogenital Diseases
  - Urologic Diseases: 799
    - Kidney Diseases: 12250
      - Inborn Errors Renal Tubular Transport
        Gitelman Syndrome: 449
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Renal Tubular Transport
    - Gitelman Syndrome: 449

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Disease

Drug/Important Bio-Agent (IBA)