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An interesting case of salt-losing tubulopathy – Gitelman’s syndrome [PDF]

open access: yesRomanian Medical Journal
Background. Gitelman’s syndrome (GS) is a rare autosomal recessive renal tubular disorder affecting the distal convoluted tubule, leading to hypokalemia, hypomagnesemia, hypocalciuria, and metabolic alkalosis.
Shrinidhi B.   +2 more
doaj   +1 more source

Erythrocytosis in a Patient with Type 1 Diabetes Mellitus and Concomitant Gitelman’s Syndrome

open access: yesEndocrinology Research and Practice, 2016
Gitelman’s syndrome (GS) is characterized by hypokalemia, hypomagnesaemia, hypocalciuria, metabolic alkalosis, and neurological symptoms. The association of GS with type 1 diabetes is rare, described only in a few case reports.
Müge Keskin   +6 more
doaj   +1 more source

A case of Gitelman's syndrome.

open access: yesNihon Naika Gakkai Zasshi, 1999
症例は20歳,女性.咽頭痛,発熱を主訴に受診した際,偶発的に著明な低K血症を指摘され,精査目的で入院した.経過中に下痢,嘔吐,口渇,多飲,多尿,テタニー,筋力低下等の症状を認めなかった.代謝性アルカローシスを伴う低K及び低Mg血症を認め尿中Ca/Cr(mol)比等からGitelman症候群と診断した.成人に認められる慢性の低K血症の診断に際しては, Gitelman症候群を念頭に置く必要があると考えた.
K, Kadomatsu   +5 more
openaire   +3 more sources

Gitelman Syndrome

open access: yesJournal of Medicine, 1970
Gitleman syndrome is a rare entity. It is a benign disorder that can present with many metabolic derangements. Here we report a patient presenting with recurrent episodes of muscle weakness, muscle cramps that was diagnosed as a cas of Gitlemans syndrome.
Minhaj Rahim Choudhury   +2 more
openaire   +2 more sources

Arg913Gln variation of SLC12A3 gene is associated with diabetic nephropathy in type 2 diabetes and Gitelman syndrome: a systematic review

open access: yesBMC Nephrology, 2019
Background Diabetic nephropathy is a global common cause of chronic kidney disease and end-stage renal disease. A lot of research has been conducted in biomedical sciences, which has enhanced understanding of the pathophysiology of diabetic nephropathy ...
Eduardo De la Cruz-Cano   +7 more
doaj   +1 more source

Dapagliflozin Attenuates NKCC2 Protein Expression and Alleviates Diabetic Kidney Disease in Salt Loaded‐Hypertensive Diabetic Db/Db Mice

open access: yesFASEB BioAdvances, Volume 8, Issue 10, October 2026.
In salt‐loaded, hypertensive diabetic db/db mice with diabetic kidney disease, dapagliflozin lowered blood pressure and reduced tubular and glomerular injury. Mechanistically, dapagliflozin increased cullin E3 ligase abundance, promoting degradation of NKCC2.
Zenab Shahzad   +5 more
wiley   +1 more source

A Case of Gitelman's Syndrome Presenting with Extreme Hypokalaemia and Paralysis

open access: yes, 2008
Gitelman's syndrome is an autosomal recessive disorder caused by various mutations of the thiazide- sensitive sodium chloride cotransporter gene. Hypokalaemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria are major clinical features of the ...
S. Yesil   +7 more
core   +1 more source

Nucleic Acids as Emerging Regulators of Calcium Phosphate Biomineralization

open access: yesThe FASEB Journal, Volume 40, Issue 17, 15 September 2026.
Calcium phosphate biomineralization has traditionally been considered a protein‐regulated process. This review highlights the emerging role of nucleic acids, which interact with mineral phases through adsorption, coprecipitation, and templating, thereby influencing crystal nucleation and growth.
Fanny Duhalde   +2 more
wiley   +1 more source

Bartter Syndrome With Normal Aldosterone Level and Acute Pancreatitis: An Unusual Presentation

open access: yesClinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT Bartter syndrome is a rare autosomal recessive renal tubulopathy, which classically presents with hypokalemic metabolic alkalosis, hyperreninemia, and hyperaldosteronism. We report an atypical presentation in a 16‐year‐old male who was diagnosed following an initial manifestation of acute pancreatitis.
Noor Ayaz   +8 more
wiley   +1 more source

Gitelman Syndrome: A Case Report

open access: yesCureus, 2023
Gitelman syndrome is a rare hereditary tubulopathy characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria. In this case report, we describe a 21-year-old male who presented with myalgias, asthenia, general muscle weakness, and hypokalemia after receiving oral potassium supplementation for six months.
Rocha, João   +4 more
openaire   +2 more sources

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