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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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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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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Kidney & Blood Pressure ResearchIntroduction: miR-155 and miR-103 are multifunctional miRNAs known to be involved in Angiotensin II (Ang II) signaling linked with hypertension and cardiovascular remodeling, although their role is controversial and not completely clarified ...
Martina Cacciapuoti +5 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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Role of miR-155 and miR-103 in Oxidative Stress in Cardiovascular Disease: A Narrative Review [PDF]
PathophysiologyBackground/Objectives: Oxidative stress is a major contributor to the pathogenesis of cardiovascular diseases, including hypertension, ischemic cardiomyopathy, and heart failure.
Martina Cacciapuoti +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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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
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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
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