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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Gitelman's syndrome - incidentally detected in an elderly female [PDF]
, 2016 Potassium is critical for many important cell functions. Hereditary tubulopathies can also present in adults with symptoms of recurrent hypokalemia. A 60 year female who was worked up for persistent hypokalemia during repeated admission with different ...
R., Rahul, Sharma, Raghava
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A new SLC12A3 founder mutation (p.Val647Met) in Gitelman's syndrome patients of Roma ancestry
Nefrología (English Edition), 2017 Background: Gitelman's syndrome (GS) is an autosomal recessive disorder caused by mutations in the SLC12A3 gene. GS is characterized by hypokalaemic metabolic alkalosis, hypomagnesemia and hypocalciuria. Most of the reported patients of Roma ancestry are
Helena Gil-Peña +11 more
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Gitelman’S Syndrome: A Hereditary Disorder Characterized By Hypokalemia And Hypomagnesaemia [PDF]
, 2010 Gitelman’s syndrome is a type of hereditary tubular disorder, which is caused by inactive mutations in the gene, which encodes thiazide sensitive sodium chloride cotransporter (SLC12A3) in the distal convoluted tubule.
Slovacek, Ladislav
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An interesting case of salt-losing tubulopathy – Gitelman’s syndrome [PDF]
Romanian Medical JournalBackground. 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
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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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Review: "Ben Kafka, The Demon of Writing: Powers and Failures of Paperwork, Zone Books, 2012" and "Lisa Gitelman, Paper Knowledge: Toward a Media History of Documents, Duke University Press, 2014" (joint review) [PDF]
, 2014 Kafka delves into the nature of paper as enabling agent of bureaucracy – i.e. paperwork – Gitelman’s focus is on “documents” and how they were shaped by print and are now transformed by the ...
von Lunen, Alexander
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, 2011 We describe a case of bilateral weakness of the lower limbs, sensory disturbance and intermittent urinary incontinence, secondary to untreated Gitelman’s syndrome, in a 42-year-old female who was referred with presumed cauda equina syndrome.
C. Moran +9 more
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Erythrocytosis in a Patient with Type 1 Diabetes Mellitus and Concomitant Gitelman’s Syndrome
Endocrinology 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
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, 1999 Gitelman’s syndrome is an autosomal recessive disorder of salt wasting and hypokalemia caused by mutations in the thiazide-sensitive Na-Cl cotransporter. To investigate the pathogenesis of Gitelman’s syndrome, eight disease mutations were introduced into
Paul Bernstein +7 more
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