Results 11 to 20 of about 6,714 (210)
BMJ Case Reports, 2013 Hypokalaemia is a common clinical disorder, the cause of which can usually be determined by the patient's clinical history. Gitelman syndrome is an inherited tubulopathy that must be considered in some settings of hypokalaemia. We present the case of a 60-year-old male patient referred to our nephrology department for persistent hypokalaemia.
Cotovio, P +3 more
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Gitelman syndrome and pregnancy [PDF]
Clinical Kidney Journal, 2012 Gitelman syndrome (GS) is an autosomal-recessive condition characterized by hypokalemia, hypomagnesemia and hypocalciuria. Very little information is available in the literature to guide the management of pregnant patients with GS. We report a case of a 27-year-old woman with GS who became pregnant and despite persistent hypokalemia and hypomagnesemia ...
Moustakakis, Michael N. +1 more
openaire +4 more sources
Two Brothers from Macedonia with Gitelman Syndrome [PDF]
Balkan Journal of Medical Genetics, 2023 Gitelman syndrome (GS) is a rare renal tubulopathy with an autosomal recessive mode of inheritance, caused by biallelic pathogenic variants in the SLC12A3 gene.
Janchevska A +8 more
doaj +2 more sources
Autosomal Dominant Calpainopathy in a Diabetic Patient Complicated by Functional Gitelman Syndrome [PDF]
Case Reports in MedicineAdult-onset Gitelman syndrome with calpainopathy is a rare clinical condition in patients with diabetes mellitus. We present the case of a 52-year-old male diabetic patient who presented with muscle weakness and fatigue.
Kabilash Manivalli Peterpalaniswami +3 more
doaj +2 more sources
Human Care Journal, 2020 Sindroma Gitelman, dikenal sebagai hipokalemia-hipomagnesemia familial, merupakan kelainan tubular autosom resesif yang ditandai dengan alkalosis metabolik, hipokalemik dengan hipomagnesemia dan hipokalsiuria. Sindrom Gitelman muncul pada usia remaja atau dewasa muda namun sering tidak terdiagnosis sampai dewasa.
Yulistia Asmi, Harnavi Harun
+8 more sources
Frontiers in Genetics, 2023 Background: The Gitelman syndrome (GS) is an autosomal recessive disorder of renal tubular salt handling. Gitelman syndrome is characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, hypocalciuria, and renin-angiotensin-aldosterone system ...
Wenqing Chen +19 more
doaj +1 more source
Journal of the Royal Society of Medicine, 2001 Gitelman's syndrome is a primary renal tubular hypokalaemic metabolic alkalosis with hypocalciuria and hypomagnesaemia, a mild variant of Bartter's syndrome.
H M, Ismail, T, Jagadeesh, R V, Bhat
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BMC Nephrology, 2021 Background Acquired Gitelman syndrome is a very rare disorder reported in association with autoimmune disorders, mostly Sjögren syndrome. It is characterized by the presence of hypokalaemic metabolic alkalosis, hypocalciuria, hypomagnesaemia and hyper ...
Rasika Ranaweerage +2 more
doaj +1 more source
Український Журнал Нефрології та Діалізу, 2023 Gitelman syndrome is a rare autosomal recessive renal tubular disease characterized by hypokalemia, metabolic alkalosis, and hypocalciuria. The syndrome develops as a result of various mutations in the SLC12A3 gene. This manuscript aims to highlight the
Melya Pelin Kırık, Can Hüzmeli
doaj +1 more source