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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
Networked: 449 relevant articles (7 outcomes, 18 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Hypotension (Low Blood Pressure)
2. Hypertension (High Blood Pressure)
3. Hypokalemia
4. Bartter Syndrome (Syndrome, Bartter)
5. Rare Diseases (Rare Disease)

Experts

1. Calò, Lorenzo A: 18 articles (11/2022 - 01/2003)
2. Lin, Shih-Hua: 16 articles (01/2021 - 05/2003)
3. Blanchard, Anne: 14 articles (11/2022 - 05/2005)
4. Vargas-Poussou, Rosa: 13 articles (11/2022 - 10/2008)
5. Yang, Sung-Sen: 12 articles (01/2021 - 05/2005)
6. Davis, Paul A: 12 articles (08/2020 - 01/2003)
7. Pagnin, Elisa: 9 articles (08/2018 - 01/2003)
8. Hsu, Yu-Juei: 9 articles (01/2017 - 02/2004)
9. Devuyst, Olivier: 8 articles (11/2022 - 03/2007)
10. Nozu, Kandai: 8 articles (09/2022 - 04/2007)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Gitelman Syndrome:
1. MagnesiumIBA
2. Furosemide (Lasix)FDA LinkGeneric
10/01/1994 - "Age of onset, tetany manifestations, absence of growth retardation, hypermagnesuria despite, hypomagnesemia, hypocalciuria not improved by furosemide favor the diagnosis of Gitelman's syndrome rather than that of Bartter syndrome initially considered."
12/01/2010 - "This study revealed the following characteristics of these disorders: 1) subjects with CLCNKB mutations showed one or more biochemical features of Gitelman syndrome (including hypomagnesemia, hypocalciuria, and fractional chloride excretion insensitivity to thiazide administration); and 2) subjects with KCNJ1 mutations appeared to show normal fractional chloride excretion sensitivity to furosemide and thiazide administration. "
08/01/2002 - "We recently diagnosed a patient with Gitelman's syndrome by performing the thiazide and furosemide tests, and it is suggested that the clearance studies by diuretic administration may be of diagnostic help in Gitelman's syndrome."
04/01/2015 - "Gitelman syndrome (GS) and Bartter syndrome (BS) are hereditary salt-losing tubulopathies (SLTs) resulting from defects of renal proteins involved in electrolyte reabsorption, as for sodium-chloride cotransporter (NCC) and furosemide-sensitive sodium-potassium-chloride cotransporter (NKCC2) cotransporters, affected in GS and BS Type 1 patients, respectively. "
01/01/1997 - "Eleven patients with Gitelman's syndrome and 23 controls underwent acute administration of the thiazide diuretic hydrochlorothiazide and/or the loop diuretic furosemide (FUR) in order to indirectly evaluate the activity of the two electroneutral Na+/Cl(-)-reabsorptive systems of the distal nephron, namely the thiazide-sensitive Na+-Cl- symporter of the distal convoluted tubule and the FUR-sensitive Na+-K+-2Cl- symporter of the loop of Henle. "
3. PotassiumIBA
4. Indomethacin (Indometacin)FDA LinkGeneric
5. Eplerenone (Inspra)FDA LinkGeneric
6. Spironolactone (Aldactone)FDA LinkGeneric
7. Calcineurin InhibitorsIBA
8. Prednisone (Sone)FDA LinkGeneric
9. MineralocorticoidsIBA
10. thiazide receptorIBA

Therapies and Procedures

1. Transplantation
2. Therapeutics
3. Anesthesia
4. Kidney Transplantation
5. Cesarean Section (Caesarean Section)