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Gitelman syndrome [PDF]

open access: yesOrphanet 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.
Levtchenko Elena N, Knoers Nine VAM
doaj   +6 more sources

Urine electrolytes guide treatment of Gitelman syndrome and recurrent syncope-A case report. [PDF]

open access: yesPhysiol Rep
Abstract Syncope is a common reason for inpatient admission. Few case studies describe an association between syncope and Gitelman syndrome (GS). Herein, we present a case of a woman with hypokalemia and recurrent syncope which eventually led to a diagnosis of GS. A physiologic approach to urine electrolyte interpretation informed clinical decisions to
Agrawal S, Fifer KM, Farouk SS, Rein JL.
europepmc   +2 more sources

Home Parenteral Support in Severe Gitelman Syndrome: A Case Report. [PDF]

open access: yesClin Case Rep
ABSTRACT Gitelman syndrome (GS), also known as familial hypokalaemia‐hypomagnesemia, is a rare autosomal recessive renal tubular disorder characterized by hypokalaemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria. Electrolyte replacement of potassium and magnesium remains the mainstay of management, with oral supplementation achieving this ...
Martin G, Fahal I, Mehta S.
europepmc   +2 more sources

Gitelman syndrome [PDF]

open access: yesHuman 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

Gitelman syndrome [PDF]

open access: yesBMJ 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
openaire   +4 more sources

Gitelman Syndrome Presenting With Syncope and Treatment-Refractory Hypokalemia in A Young Woman: A Case Report. [PDF]

open access: yesClin Case Rep
ABSTRACT Gitelman syndrome (GS) is a rare autosomal recessive tubulopathy characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria. A 27‐year‐old woman presented with a witnessed syncopal episode, progressive weakness, and nausea.
Melkie IS   +5 more
europepmc   +2 more sources

Gitelman's Syndrome [PDF]

open access: yesJournal 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
openaire   +2 more sources

Chondrocalcinosis and Gitelman syndrome [PDF]

open access: yesQJM, 2016
A 37-year-old Polish lady presented left knee pain causing reduced mobility and time off work. She also complained of intermittent episodes of fatigue. Knee X-ray showed marked chondrocalcinosis (Figure 1). Serum electrolytes revealed a potassium level of 2.8 mmol/l and magnesium of 0.46 mmol/l and a hypochloraemic metabolic alkalosis.
Z, Iqbal, J A, Sayer
openaire   +2 more sources

Pregnancy with Gitelman's syndrome [PDF]

open access: yesObstetric Medicine, 2011
Gitelman's syndrome is a rare genetic disease associated with chronic hypokalaemia, hypomagnesaemia and hypocalciuria. It requires lifelong supplementation with potassium and magnesium. Pregnancy management can be difficult and there are few published reports. Our case adds to the literature and illustrates some of the potential problems.
F, Raffi   +3 more
openaire   +2 more sources

Acquired Gitelman Syndrome [PDF]

open access: yesElectrolytes & 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
openaire   +2 more sources

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