Results 11 to 20 of about 762 (149)
Acquired Bartter Syndrome in Primary Sjögren Syndrome
Saudi Journal of Kidney Diseases and Transplantation, 2020 Renal tubular involvement in Sjögren's syndrome (SS) often described with renal tubular acidosis, nephrogenic diabetes insipidus, or rarely with Fanconi syndrome.
Aya Fraj +6 more
doaj +1 more source
Magnesium lactate in the treatment of Gitelman syndrome: patient-reported outcomes. [PDF]
, 1997 BACKGROUND: Gitelman syndrome (GS) is a rare recessively inherited renal tubulopathy associated with renal potassium (K) and magnesium (Mg) loss. It requires lifelong K and Mg supplementation at high doses that are at best unpalatable and at worst ...
A. Ingsathit +40 more
core +39 more sources
Antagonistic regulation of parvalbumin expression and mitochondrial calcium handling capacity in renal epithelial cells [PDF]
, 2015 Parvalbumin (PV) is a cytosolic Ca²⁺-binding protein acting as a slow-onset Ca²⁺ buffer modulating the shape of Ca²⁺ transients in fast-twitch muscles and a subpopulation of neurons. PV is also expressed in non-excitable cells including distal convoluted
Henzi, Thomas, Schwaller, Beat
core +7 more sources
Stem Cell Research, 2020 We established a human induced pluripotent stem cells (hiPSC) line (CMCi002-A) from peripheral blood mononuclear cells (PBMCs) of 29-year-old male with Gitelman’s syndrome (GIT) caused by the mutation of solute carrier family 12 member 3 (SLC12A3) gene ...
Sun Woo Lim +7 more
doaj +1 more source
Persistent hypokalemia due to a rare mutation in gitelman's syndrome
Saudi Journal of Kidney Diseases and Transplantation, 2020 Chronic hypokalemia is the main finding in patients with Gitelman’s syndrome (GS). GS, a variant of Bartter’s syndrome, is an autosomal recessive renal disorder characterized by hypokalemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria.
Dimitrios Mamalis +4 more
doaj +1 more source
, 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.
Costa, F +3 more
core +1 more source
Journal of Medical Case Reports, 2011 Introduction Chronic hypokalemia is the main finding in patients with Gitelman's syndrome. Exogenous factors can trigger deterioration of the patient's condition and provoke clinical symptoms.
Schmid Christoph +3 more
doaj +1 more source
A new SLC12A3 founder mutation (p.Val647Met) in Gitelman's syndrome patients of Roma ancestry
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 +3 more sources
Does stress induce salt intake? [PDF]
, 2010 Psychological stress is a common feature of modern day societies, and contributes to the global burden of disease. It was proposed by Henry over 20 years ago that the salt intake of a society reflects the level of stress, and that stress, through its ...
Anne I. Turner +16 more
core +1 more source
Calcium Unresponsive Hypocalcemic Tetany: Gitelman Syndrome with Hypocalcemia
Case Reports in Medicine, 2013 Introduction. Gitelman’s syndrome (GS) is autosomal recessive renal tubular disorder characterized by hypokalemia, hypomagnesemia, hypocalciuria, metabolic alkalosis, and hyperreninemic hyperaldosteronism.
Madhav Desai +2 more
doaj +1 more source