Results 31 to 40 of about 2,349 (166)
The First Korean Case of SLC12A3 Aberrant Skipping of Two Exons Detected by RNA Splicing Analysis
Case Reports in Nephrology and Dialysis, 2021 Gitelman syndrome is a salt-losing tubular disorder that is transmitted as an autosomal recessive trait. Variants in the SLC12A3 gene are found in the majority of Gitelman syndrome patients. A 26-year-old woman visited the genetic counseling clinic.
Kiwoong Ko, Jong-Won Kim
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A case of Gitelman's syndrome.
Nihon 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
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Diabetic ketoacidosis in a patient known with Gitelman syndrome
JRSM Open, 2023 Summary Gitelman syndrome is a rare hereditary nephropathy, which causes chronic metabolic alkalosis with low potassium and magnesium levels. There is no known coherence between Gitelman syndrome and Type-1 diabetes but patients with both diseases that ...
Ida Ringsing Nielsen +2 more
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F1000Research, 2016 Gitelman syndrome is an inherited tubulopathy leading to a hypokalaemic metabolic alkalosis with hypomagnesaemia and hypocalciuria. Most cases are due to mutations in SLC12A3, encoding the apical thiazide sensitive co-transporter in the distal convoluted
Zahra Iqbal, Paul Mead, John A. Sayer
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Distal Tubulopathy. Gitelman Syndrome
Педиатрическая фармакология, 2019 The clinical recommendations on management of children with Gitelman syndrome developed by the experts of the Union of pediatricians of Russia are presented in this article.
Alexander A. Baranov +15 more
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BMC Nephrology, 2020 Background Gitelman syndrome is a rare salt-losing renal tubular disorder associated with mutation of SLC12A3 gene, which encodes the Na-Cl co-transporter (NCCT).
Bingzi Dong +7 more
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FASEB 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
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Gitelman Syndrome: A Case Report
Cureus, 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
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SAGE Open Medical Case ReportsWe report the case of a patient who exhibits a concurrent diagnosis of type 1 diabetes mellitus, Gitelman syndrome and Cacci-Ricci disease. A 27-year-old male patient was diagnosed with Gitelman syndrome at the age of 3 years.
Molka Ben Bnina +5 more
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Gitelman′s syndrome presenting with hypocalcemic tetany and hypokalemic periodic paralysis
Saudi Journal of Kidney Diseases and Transplantation, 2016 Gitelman′s syndrome is an autosomal recessive renal tubular disorder characterized by hypomagnesemia, hypokalemia, hypocalciuria, and metabolic alkalosis. Hypocalcemic tetany as a presentation of Gitelman′s syndrome has rarely been reported in literature.
Kunal Gandhi +3 more
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