Results 11 to 20 of about 1,230,526 (158)
Pregnancy with Gitelman's syndrome. [PDF]
Obstet Med, 2011 Gitelman's syndrome is a rare genetic disease associated with chronic hypokalaemia, hypomagnesaemia and hypocalciuria. It requires lifelong supplementation with potassium and magnesium. Pregnancy management can be difficult and there are few published reports. Our case adds to the literature and illustrates some of the potential problems.
Raffi F +3 more
europepmc +5 more sources
Gitelman syndrome disclosed by calcium pyrophosphate deposition disease: early diagnosis by ultrasonographic study [PDF]
Reumatismo, 2016 Gitelman’s syndrome is a rare autosomal-recessive tubular disorder characterized by hypomagnesemia and hypocalciuria associated to hypokalemia. The clinical spectrum is wide and usually characterized by chronic fatigue, cramps, muscle weakness and ...
A. Zabotti +5 more
doaj +2 more sources
A new SLC12A3 founder mutation (p.Val647Met) in Gitelman's syndrome patients of Roma ancestry [PDF]
Nefrología (English Edition), 2017 Background: Gitelman's syndrome (GS) is an autosomal recessive disorder caused by mutations in the SLC12A3 gene. GS is characterized by hypokalaemic metabolic alkalosis, hypomagnesemia and hypocalciuria. Most of the reported patients of Roma ancestry are
Helena Gil-Peña +11 more
doaj +6 more sources
Spectrum of Mutations in Gitelman Syndrome [PDF]
Journal of the American Society of Nephrology, 2011 Gitelman's syndrome (GS) is a rare, autosomal recessive, salt-losing tubulopathy caused by mutations in the SLC12A3 gene, which encodes the thiazide-sensitive NaCl cotransporter (NCC). Because 18 to 40% of suspected GS patients carry only one SLC12A3 mutant allele, large genomic rearrangements may account for unidentified mutations.
Vargas-Poussou, Rosa +22 more
openaire +4 more sources
Although myeloid-cell RGS2 knockout does not affect Ang II-induced hypertension/organ damage in mice, high RGS2 in Gitelman/Bartter syndromes-human models of endogenous Ang II signaling antagonism-is associated with hypotensive/antiremodeling effects. [PDF]
Physiol RepPhysiological Reports, Volume 14, Issue 18, September 2026.
Calò LA, Cacciapuoti M, Davis PA.
europepmc +2 more sources
Human Care Journal, 2020 Sindroma Gitelman, dikenal sebagai hipokalemia-hipomagnesemia familial, merupakan kelainan tubular autosom resesif yang ditandai dengan alkalosis metabolik, hipokalemik dengan hipomagnesemia dan hipokalsiuria. Sindrom Gitelman muncul pada usia remaja atau dewasa muda namun sering tidak terdiagnosis sampai dewasa.
Yulistia Asmi, Harnavi Harun
+8 more sources
J R Soc Med, 2001 Gitelman's syndrome is a primary renal tubular hypokalaemic metabolic alkalosis with hypocalciuria and hypomagnesaemia, a mild variant of Bartter's syndrome.
Ismail HM, Jagadeesh T, Bhat RV.
europepmc +4 more sources
New SLC12A3 disease causative mutation of Gitelman's syndrome. [PDF]
World J Nephrol, 2016 Gitelman's syndrome (GS) is a salt-losing tubulopathy with an autosomal recessive inheritance caused by mutations of SLC12A3, which encodes for the thiazide-sensitive NaCl cotransporter.
Grillone T +8 more
europepmc +2 more sources
Gitelman's syndrome with hyperphosphatemia, effectively responding to single oral magnesium oxide administration: A case report. [PDF]
Medicine (Baltimore), 2019 Rationale: The Gitelman's syndrome (GS) is characterized by metabolic alkalosis, hypokalemia, hypomagnesemia, and hypocalciuria. However, the involvement of this deranged electrolyte balance in patients with GS in parathyroid hormone action has not been ...
Miya A +5 more
europepmc +2 more sources
BMJ Case Reports, 2013 Hypokalaemia is a common clinical disorder, the cause of which can usually be determined by the patient's clinical history. Gitelman syndrome is an inherited tubulopathy that must be considered in some settings of hypokalaemia. We present the case of a 60-year-old male patient referred to our nephrology department for persistent hypokalaemia.
Cotovio, P +3 more
openaire +4 more sources