Evaluating PVALB as a candidate gene for SLC12A3-negative cases of Gitelman's syndrome.
, 2008 Item does not contain fulltextBACKGROUND: Loss-of-function mutations in SLC12A3 coding for the thiazide-sensitive NaCl cotransporter (NCC) cause Gitelman's syndrome (GS), a recessively inherited salt-losing tubulopathy.
Jeunemaitre, X. +22 more
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Bartter's Syndrome with Type 2 Diabetes Mellitus
, 2009 We report a rare case of Bartter's syndrome in a 35-year-old woman with type 2 diabetes mellitus. The patient presented with leg weakness, fatigue, polyuria and polydipsia.
Ting-Ting See +3 more
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The role of renal chloride channel mutations in kidney stone disease and nephrocalcinosis.
, 1998 Recent advances in molecular biology have characterised a new class of chloride channels (CLCs) that are referred to as voltage-gated CLCs. To date nine such voltage-gated CLCs (CLC-1 to CLC-7, CLC-Ka and CLC-Kb, which are encoded by the genes CLCN1 to ...
Thakker, Rajesh
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Two unusual cases of Gitelman's syndrome with a complex inheritance: how the phenotype can help interpret the genotype: lesson for the clinical nephrologist. [PDF]
J Nephrol, 2021 Calò LA +3 more
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Choroidal calcifications in patients with Gitelman’s Syndrome
, 2000 Gitelman's syndrome is a renal tubular disorder characterized by a sodium and chloride reabsorption defect in distal tubular cells that determines hypokalemia, metabolic alkalosis, hypomagnesemia, and low calcium excretion.
Jansen A, Soldati L, Vezzoli G, Pierro L
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Journal of the College of Physicians and Surgeons--Pakistan : JCPSP, 2018 Gitelman syndrome (GS) is the most frequently inherited renal salt-wasting tubulointerstitial disease. It follows variable but usually asymptomatic benign course. We present a rare case of GS that remained clinical enigma. A 22-year male presented with severe episodic fatigue involving all limbs associated with episodes of sinking, palpitations, salt ...
Qurat Ul Ain, Mustafa +4 more
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Sindrome de GITELMAN: primer caso reportado en el Perú: GITELMAN syndrome first case report in Peru [PDF]
, 2018 Introduction: Gitelman's syndrome is an infrequent tubulopathy, transmitted by autosomal recessive inheritance due to mutations of the SLC12A3 gene, which is responsible for encoding the cotransporter Na Cl synthesis of the distal convoluted tubule. This
Aguilar-Hulloque, Miguel M +4 more
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Gitelman syndrome in an infant
Indian Journal of Nephrology, 2015 Nandi, M., Pandey, G., Sarkar, S.
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Hereditary renal tubular disorders in Turkey: Demographic, clinical, and laboratory features
, 2011 The Turkish Renal Tubular Disorders Working Group aimed to form a patient registry database and gathered demographic, clinical, and laboratory data in various hereditary renal tubular disorders (HRTDs). A questionnaire comprising HRTDs was sent to the
Topaloğlu, Rezan +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.
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