Results 51 to 60 of about 762 (149)
Familial Hypokalemic Alkalosis: Gitelman’s Syndrome
Turkish Journal of Nephrology, 2019 Gitelman’s syndrome is one of the major variant of familial hypokalemic alkalosis syndromes, presenting with hypocalciuria, hypomagnesemia, and sodium and cloride wasting, which results in hyperreninemia and hyperaldosteronism.
Mesut AKÇAKAYA +5 more
doaj
Renal phosphate handling in Gitelman syndrome—the results of a case-control study [PDF]
, 2018 Background: Patients with Gitelman syndrome, a hereditary salt-wasting tubulopathy, have loss-of-function mutations in the SLC12A3 gene coding for the thiazide-sensitive sodium chloride co-transporter in the distal convoluted tubule.
Albisetti, Walter +7 more
core
Animal models of hypertension and concurrent organs injury
Animal Models and Experimental Medicine, Volume 8, Issue 10, Page 1775-1784, October 2025.Although hypertension is a frequently seen chronic condition across the world, its exact cause remains unclear. Animal models are beneficial for clarifying the pathogenic mechanism of hypertension and examining new treatments. An optimal animal model for studies on hypertension must well mimic human‐like hemodynamics and pathophysiological structural ...
Ye Wang, Xiaoliang Jiang, Zhiwei Yang
wiley +1 more source
Metabolic syndrome and the risk of calcium stones [PDF]
, 2017 Sakhaee et al in this issue have investigated whether the risk of the common calcium nephrolithiasis is associated with the metabolic syndrome (MS).
Adams-Huet, Beverley +6 more
core
Mouse Models of Human Claudin-Associated Disorders: Benefits and Limitations [PDF]
, 2019 In higher organisms, epithelia separate compartments in order to guarantee their proper function. Such structures are able to seal but also to allow substances to pass.
Fernández-Rodríguez, Cármen +3 more
core +1 more source
Veterinary Record Case Reports, Volume 13, Issue 3, September 2025.Abstract Renal potassium wasting syndromes, such as Gitelman's syndrome (GS), are well documented in humans but rarely reported in veterinary medicine. This case describes a 6‐month‐old domestic medium‐hair cat presenting with chronic hypokalaemia, polyuria and polydipsia. Diagnostic evaluation revealed hypokalaemia, metabolic alkalosis, hypochloraemia
Kyle L. Granger Jr. +2 more
wiley +1 more source
Characterisation of the Cullin-3 mutation that causes a severe form of familial hypertension and hyperkalaemia [PDF]
, 2015 Deletion of exon 9 from Cullin‐3 (CUL3, residues 403–459: CUL3Δ403–459) causes pseudohypoaldosteronism type IIE (PHA2E), a severe form of familial hyperkalaemia and hypertension (FHHt).
Al Maskari, Raya S. +14 more
core +4 more sources
Novel Pathogenic Genotype in SLC12A3 Associated to Gitelman Syndrome: A Case Report
Nephrology, Volume 30, Issue 9, September 2025.ABSTRACT Gitelman syndrome (GS) is considered one of the most common hereditary renal tubular disorders, characterised by hypokalemia, hypomagnesemia, hypocalciuria, and metabolic alkalosis. The primary cause of this disorder resides in the SLC12A3 gene, which encodes the NaCl cotransporter in the distal convoluted tubule, and for which more than 500 ...
Patricia Tomás‐Simó +5 more
wiley +1 more source
Living with Gitelman disease: an insight into patients' daily experiences [PDF]
, 2017 Background Gitelman disease presents with musculoskeletal complaints and fatigue. Surprisingly, there is no clear-cut correlation between biochemical abnormalities and symptoms.
Bettinelli, Alberto +5 more
core
Clinical Case Reports, Volume 13, Issue 8, August 2025.ABSTRACT This case highlights an unusual presentation of Bartter Syndrome Type 3 marked by hypocalciuria and opisthotonus posture. Recognizing such atypical neuromuscular signs is essential for early diagnosis, genetic confirmation, and targeted management in pediatric patients with electrolyte imbalances.
Karim Hassan +5 more
wiley +1 more source