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
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Oxidants and Cardiorenal Vascular Remodeling—Insights from Rare Genetic Tubulopathies: Bartter’s and Gitelman’s Syndromes [PDF]
Antioxidants, 2023 Two human genetic tubulopathies, Bartter’s (BS) and Gitelman’s (GS) syndromes, have normo/hypotension and absent cardiac remodeling despite their apparent angiotensin system (RAS) activation.
Luca Sgarabotto +6 more
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Unique genetic presentation of Gitelman syndrome in a Hispanic patient: Case report [PDF]
SAGE Open Medical Case ReportsGitelman’s syndrome, also known as, familial hypokalemia–hypomagnesemia, is a renal tubulopathy responsible for salt wasting resulting in, hypomagnesemia, hypocalciuria, and secondary activation of the renin–angiotensin–aldosterone system, responsible ...
Aldo Arce +3 more
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Gitelman’s syndrome complicated by mild renal insufficiency and high anion gap acidosis; a rare presentation in a young female [PDF]
Journal of Nephropathology, 2015 Background: Gitelman’s syndrome (GS) is a rare autosomal recessive renal tubular disorder that is characterized by episodic clinical manifestations and persistent biochemical abnormalities.
Nazrul Hassan Jafry +2 more
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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 Bartter\u2019s syndrome (BS) and Gitelman\u2019s syndrome (GS) are autosomal recessive disorders with overlapping features, caused by biallelic variants in six genes encoding proteins involved in renal electrolyte homeostasis in different districts of ...
Calò LA +3 more
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Relationship between NOX4 level and angiotensin II signaling in Gitelman's syndrome. Implications with hypertension. [PDF]
Int J Clin Exp Med, 2015 Recent evidence showed that endogenous nicotinamide adenine dinucleotide phosphate-oxidase 4 (NOX4) may exert a protective role on the cardiovascular system inducing vasodilation, reduction of blood pressure, and anti-proliferative actions.
Calò LA +5 more
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Thyrotoxic periodic paralysis - a retrospective study from Southern India [PDF]
European Thyroid JournalObjective: Thyrotoxic periodic paralysis is a rare manifestation of thyrotoxicosis. Here, we describe the clinical and biochemical features and treatment outcomes of this disorder.
Jinson Paul +8 more
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“Every Cloud Has a Silver Lining”: How Three Rare Diseases Defend Themselves from COVID-19 and What We Have Learnt from It [PDF]
Clinics and PracticeThe process of SARS-CoV-2 infection, responsible for the COVID-19 pandemic, is carried out through different steps, with the interaction between ACE2 and Spike protein (S) being crucial.
Martina Cacciapuoti +5 more
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Pathophysiology of Post Transplant Hypertension in Kidney Transplant: Focus on Calcineurin Inhibitors Induced Oxidative Stress and Renal Sodium Retention and Implications with RhoA/Rho Kinase Pathway [PDF]
Kidney & Blood Pressure Research, 2017 Post-transplant hypertension is a common occurrence during treatment with calcineurin inhibitors (CNIs) in kidney transplant population. The pathogenesis of vasoconstriction induced by CNIs involves vascular tone alterations and kidney sodium transport ...
Lorenzo A. Calò +7 more
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Not every elevating enzyme tells the same story: unpacking creatine kinase and anti-Jo-1 positivity beyond inflammatory myositis [PDF]
Romanian Journal of Rheumatology, 2023 Gitelman syndrome (GS) is an autosomal recessive familial disorder characterized by hypokalemia and metabolic alkalosis. Rhabdomyolysis due to hypokalemia is extremely rare. The presentation of GS leading to rhabdomyolysis is extremely rare as well. This
Dilara Bulut Gökten, Rıdvan Mercan
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