Results 21 to 30 of about 1,230,526 (158)
Orphanet Journal of Rare Diseases, 2008 Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. The prevalence is estimated at approximately 1:40,000 and accordingly, the prevalence of heterozygotes is approximately 1% in Caucasian ...
Knoers, Nine V.AM., Levtchenko, Elena
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Chondrocalcinosis and Gitelman syndrome [PDF]
QJM, 2016 No description ...
Z. Iqbal, John Sayer
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An acquired Bartter syndrome with secondary Sjögren syndrome [PDF]
, 2023 Renal tubular involvement in Sjögren's syndrome (SS) often described with renal tubular acidosis, nephrogenic diabetes insipidus, or rarely with Fanconi syndrome.
Naik, Manjiri R. +3 more
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Clinical and Genetic Study of a Pseudo-Dominant Primary Ciliary Dyskinesia Pedigree: The First DNAAF1-Associated Family Reported in Chinese Population. [PDF]
Mol Genet Genomic MedWe report pseudo‐dominant PCD inheritance in a Chinese family due to novel DNAAF1 mutations. Affected members across two generations showed significant variability in lung disease progression and visceral arrangement. ABSTRACT Background Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disorder typically inherited in an autosomal ...
Guo Z, Li P, Jiang G, Chen W.
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Acquired Gitelman Syndrome [PDF]
Electrolytes & Blood Pressure, 2009 Acquired renal tubular disorder can be observed in various disease processes, especially autoimmune diseases. Gitelman syndrome is an autosomal recessive disease characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria.
Kim, Yong Kyun +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
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Persistent hypokalemia due to a rare mutation in gitelman's syndrome
Saudi Journal of Kidney Diseases and Transplantation, 2020 Chronic hypokalemia is the main finding in patients with Gitelman’s syndrome (GS). GS, a variant of Bartter’s syndrome, is an autosomal recessive renal disorder characterized by hypokalemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria.
Dimitrios Mamalis +4 more
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[From gene to disease; mutations in the SLC12A3 gene as the cause of Gitelman's syndrome] [PDF]
, 2005 Contains fulltext : 47957.pdf (Publisher’s version ) (Open Access)Gitelman's syndrome is characterised by persistent hypokalaemia, hypomagnesaemia and hypocalciuria (OMIM 263800).
Bindels, R J M +7 more
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Calcium Unresponsive Hypocalcemic Tetany: Gitelman Syndrome with Hypocalcemia
Case Reports in Medicine, 2013 Introduction. Gitelman’s syndrome (GS) is autosomal recessive renal tubular disorder characterized by hypokalemia, hypomagnesemia, hypocalciuria, metabolic alkalosis, and hyperreninemic hyperaldosteronism.
Madhav Desai +2 more
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A case of paraplegia due to limb girdle muscular dystrophy with coexisting gitelman’s syndrome
Asian Journal of Medical Sciences, 2016 Muscular dystrophies are a rare group of disorders affecting the skeletal muscles, which are progressive, hereditary and degenerative. A sudden worsening of the condition should raise the possibility of hypokalemia, followed by its evaluation and ...
Robin George Manappallil
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