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Gitelman Syndrome

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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:

Hypokalemia-Hypomagnesemia, Primary Renotubular, with Hypocalciuria; Hypomagnesemia-Hypokalemia, Primary Renotubular, with Hypocalciuria; Primary Renotubular, Hypokalemia-Hypomagnesemia with Hypocalciuria; Primary Renotubular, Hypomagnesemia-Hypokalemia with Hypocalciuria; Primary Renotubular, Hypokalemia Hypomagnesemia with Hypocalciuria; Primary Renotubular, Hypomagnesemia Hypokalemia with Hypocalciuria; Syndrome, Gitelman

Networked: 96 relevant articles (3 outcomes, 6 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Hypertension (High Blood Pressure)
2.	Hypotension (Low Blood Pressure)
3.	Liddle Syndrome
4.	Rare Diseases (Rare Disease)
5.	Polyuria

Experts

1.	Bettinelli, Alberto: 6 articles (04/2015 - 07/2002)
2.	Tajima, Toshihiro: 4 articles (01/2015 - 02/2002)
3.	Bianchetti, Mario G: 4 articles (01/2013 - 04/2004)
4.	Calò, Lorenzo A: 3 articles (11/2015 - 04/2005)
5.	Davis, Paul A: 3 articles (11/2015 - 04/2005)
6.	Tedeschi, Silvana: 3 articles (04/2015 - 07/2002)
7.	Hsu, Yu-Juei: 3 articles (03/2015 - 02/2004)
8.	Lin, Shih-Hua: 3 articles (03/2015 - 02/2004)
9.	Blanchard, Anne: 3 articles (02/2015 - 05/2005)
10.	Chen, Limeng: 2 articles (09/2015 - 01/2014)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Gitelman Syndrome:

1.	MagnesiumIBA 01/01/2014 - "Clinical severity of Gitelman syndrome determined by serum magnesium." 01/01/2009 - "In this article we review the hypomagnesemic disorders in children with emphasis on the molecular mechanisms responsible for abnormalities in magnesium homeostasis, differential diagnosis and appropriate therapy, and we describe the clinical and biochemical manifestations as well as the genetic defect in a family with Gitelman syndrome." 04/15/2004 - "Normal plasma total magnesium in Gitelman syndrome." 05/01/1999 - "Magnesium supplementation in Gitelman syndrome." 01/01/1993 - "In familial hypomagnesemia-hypokalemia (Gitelman syndrome) the renal magnesium threshold is lowered but the tubular maximum is in the normal range. "
2.	PotassiumIBA 10/01/2015 - "Laboratory findings were consistent with Gitelman syndrome and potassium supplementation was initiated. " 06/01/2010 - "Fetal demise despite normalisation of serum potassium in Gitelman syndrome. " 06/01/2013 - "Unexpected clinical sequelae of Gitelman syndrome: hypertension in adulthood is common and females have higher potassium requirements." 10/01/2011 - "The Gitelman syndrome is a rare disease with renal potassium loss and hypotension. " 06/01/2004 - "Is normalisation of serum potassium and magnesium always necessary in Gitelman Syndrome for a successful obstetric outcome?"
3.	Indomethacin (Indometacin)FDA LinkGeneric 06/01/2014 - "A severe phenotype of Gitelman syndrome with increased prostaglandin excretion and favorable response to indomethacin." 12/01/1999 - "Dose related growth response to indometacin in Gitelman syndrome." 12/01/1999 - "Indometacin is reported to improve growth in Bartter syndrome, but not in Gitelman syndrome, where magnesium supplements are recommended. " 12/01/1999 - "This paper presents 3 sisters with Gitelman syndrome who could not tolerate magnesium supplements, and whose hypotension and polyuria were eliminated by taking 2 mg/kg/day indometacin, but who grew poorly. " 02/01/2015 - "Indomethacin, amiloride, or eplerenone for treating hypokalemia in Gitelman syndrome."
4.	Prednisone (Sone)FDA LinkGeneric 06/01/2009 - "Treatment of acquired Gitelman syndrome was done with supplements of potassium and magnesium and prednisone was effective in some cases. "
5.	MineralocorticoidsIBA 05/24/1997 - "Recent advances in genetics has improved our knowledge of the pathophysiological mechanisms involved in certain rare diseases including apparent overproduction of mineralocorticoids, Liddle syndrome and Gitelman syndrome, and to hypothesize on the mechanism of primary hypertension. "
6.	CalciumIBA 01/01/2008 - "Gitelman syndrome, a more benign condition than the other clinical variants, has the classic hallmark finding of hypomagnesemia and low to normal excretion of calcium. " 05/01/2007 - "Hypocalciuria is common in patients with Gitelman syndrome (GS), and its cause primarily is enhanced renal reabsorption of calcium in the proximal tubule in response to hypovolemia, judged by recent studies in animals. " 10/01/2015 - "Gitelman syndrome could be confused with Bartter syndrome; the main differentiating feature is the presence of low urinary calcium excretion in the former. " 01/01/2013 - "Calcium unresponsive hypocalcemic tetany: gitelman syndrome with hypocalcemia." 01/01/2013 - "Gitelman syndrome (GS) is an autosomal recessive disease of renal tubulopathy, primarily characterized by hypokalemic metabolic alkalosis with significant hypomagnesemia, low urinary calcium, secondary aldosteronism and normal blood pressure. "
7.	Sodium Channel Blockers (Potassium Sparing Diuretics)IBA 05/01/2013 - "This study has shown for the first time that aliskiren may represent a reliable and safe treatment as an alternative to potassium-sparing diuretics for Gitelman syndrome." 12/01/2009 - "Potassium-sparing diuretics were not prescribed, because successful pregnancy outcomes have been reported in patients with Bartter's syndrome and Gitelman syndrome without normalization of potassium levels. " 02/01/2015 - "Patients with Gitelman syndrome (GS), an inherited salt-losing tubulopathy, are usually treated with potassium-sparing diuretics or nonsteroidal anti-inflammatory drugs and oral potassium and magnesium supplementations. "
8.	Heme Oxygenase-1IBA 07/01/2012 - "This study reports on CGRP concentration and heme oxygenase-1 protein level in Bartter/Gitelman syndrome's patients compared with healthy individuals and analyzes their relationships with EPCs [CD34⁺kinase insert domain receptor (KDR⁺), CD133⁺KDR⁺, CD34⁺CD133⁺KDR⁺) as well as FMD. " 07/01/2012 - "In Bartter/Gitelman syndrome, both CGRP and heme oxygenase-1 were strongly correlated with both EPCs and FMD. " 07/01/2012 - "Using a human model opposite to hypertension, this study provides information on the relationships between CGRP, heme oxygenase-1, FMD, major clinical and biochemical factors involved in cardiovascular disease, and EPC-specific populations and may also serve to confirm the utility of Bartter/Gitelman syndrome patients in delineating EPCs and related factors roles in the pathophysiology of cardiovascular remodeling in humans." 11/01/2015 - "In fact, Bartter/Gitelman syndrome patients are characterized by reduced levels of p22(phox) gene expression and undetectable plasma peroxynitrite levels, while showing increased plasma antioxidant power and expression of antioxidant enzymes, such as heme oxygenase-1. "
9.	Furosemide (Lasix)FDA LinkGeneric 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. " 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. "
10.	rho-Associated KinasesIBA 04/01/2005 - "Rho kinase inhibition and vascular protection: support from studies in Bartter and Gitelman syndrome."

Therapies and Procedures

1.	Anesthesia 11/01/2006 - "Anesthesia in a patient with Gitelman syndrome." 02/01/2012 - "Of the 42 patients with Gitelman syndrome, 5 underwent procedures requiring anesthesia: mastectomy, spinal fusion, thyroidectomy, tonsillectomy, and bronchoscopy. "
2.	Transplants (Transplant) 10/01/2000 - "Cyclosporine should be used cautiously in transplant patients with Gitelman syndrome or other acquired magnesium homeostasis disorders because of the possible increased risk of neurotoxicity. "
3.	Kidney Transplantation 02/01/2006 - "Correction of renal hypertension after kidney transplantation from a donor with Gitelman syndrome."
4.	Transplantation (Transplant Recipients) 02/01/2006 - "This is the first reported case of acquired Gitelman syndrome after transplantation. "
5.	Tonsillectomy 02/01/2012 - "Of the 42 patients with Gitelman syndrome, 5 underwent procedures requiring anesthesia: mastectomy, spinal fusion, thyroidectomy, tonsillectomy, and bronchoscopy. "