Knowing the meaning of the words we use: Gitelman’s syndrome or Gitelman’s disease?
Nefrología (English Edition), 2023 Víctor M. García-Nieto +2 more
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Gitelman syndrome and glomerular proteinuria: a link between loss of sodium-chloride cotransporter and podocyte dysfunction? [PDF]
, 2017 We report on a 27-year-old patient presenting with chronic hypokalaemia, inappropriate kaliuresis, hypomagnesaemia and alkalosis, associated with moderate proteinuria.
Auberger, Ines +7 more
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Gitelman Syndrome in a School Boy Who Presented with Generalized Convulsion and Had a R642H/R642W Mutation in the SLC12A3 [PDF]
, 2014 An 8-year-old Japanese boy presented with a generalized convulsion. He had hypokalemia (serum K 2.4 mEq/L), hypomagnesemia, and metabolic alkalosis (BE 5.7 mmol/L). In addition, his plasma renin activity was elevated.
Aki Ikumi +7 more
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IgA nephropathy, the most common cause of glomerulonephritis, is linked to 6q22–23 [PDF]
, 2015 19openopenAli G. Gharavi; Yan Yan; Francesco Scolari; F. Paolo Schena; Giovanni M. Frasca; Gian Marco Ghiggeri; Kerry Cooper; Antonio Amoroso; Battista Fabio Viola; Graziana Battini10; Gianluca Caridi8; Cristina Canova; Anita Farhi; Vairavan ...
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Parvalbumin: calcium and magnesium buffering in the distal nephron [PDF]
, 2017 Parvalbumin (PV) is a classical member of the EF-hand protein superfamily that has been described as a Ca2+ buffer and Ca2+ transporter/shuttle protein and may also play an additional role in Mg2+ handling.
Devuyst, Olivier +4 more
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The mutation c.1196_1202dup7bp (p.Ser402X) in the SLC12A3 gene clusters in Italian Gitelman syndrome patients and reflects the presence of a common ancestor [PDF]
, 2010 n/
, +8 more
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Rho kinase inhibitors for SARS-CoV-2 induced acute respiratory distress syndrome: Support from Bartter's and Gitelman's syndrome patients. [PDF]
Pharmacol Res, 2020 Calò LA, Bertoldi G, Davis PA.
europepmc +1 more source
Genome-Wide Association Studies of Serum Magnesium, Potassium, and Sodium Concentrations Identify Six Loci Influencing Serum Magnesium Levels [PDF]
, 2013 Magnesium, potassium, and sodium, cations commonly measured in serum, are involved in many physiological processes including energy metabolism, nerve and muscle function, signal transduction, and fluid and blood pressure regulation.
Aspelund, Thor +36 more
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Generation and Characterization of the Cation-Chloride Cotransporter KCC2 Hypomorphic Mouse [PDF]
, 2006 The cation-Cl- cotransporter (CCC) family comprises of Na+-Cl- cotransporter (NCC), Na+-K+-2Cl- cotransporters (NKCC1-2), and four K+-Cl- cotransporters (KCC1-4).
Tornberg, Janne
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, 2017 OBJECTIVE: Bartter\u27s syndrome is a rare genetic disorder characterized by renal salt wasting, hypokalemia and metabolic alkalosis. CASE REPORT: A 32 years old male patient presented to casualty with complaints of generalised weakness and ...
A P, Ambali, J V, Bomman, Mulimani, M S
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