Literature DB >> 23585506

Gitelman syndrome.

Patricia Cotovio1, Cristina Silva, Nuno Oliveira, Fátima Costa.   

Abstract

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. Clinical history was positive for symptoms of orthostatic hypotension and polyuria. There was no history of drugs consumption other than potassium supplements. Complementary evaluation revealed hypokalaemia (2.15 mmol/l), hypomagnesaemia (0.29 mmol/l), metabolic alkalosis (pH 7.535, bicarbonate 34.1 mmol/l), hypereninaemia (281.7 U/ml), increased chloride (160 mmol/l) and sodium (126 mmol/l) urinary excretion and reduced urinary calcium excretion (0.73 mmol/l). Renal function, remainder serum and urinary ionogram, and renal ultrasound were normal. A diagnosis of Gitelman syndrome was established. We reinforced oral supplementation with potassium chloride and magnesium sulfate. Serum potassium stabilised around 3 mmol/l. The aim of our article is to remind Gitelman syndrome in the differential diagnosis of persistent hypokalaemia.

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Year:  2013        PMID: 23585506      PMCID: PMC3645279          DOI: 10.1136/bcr-2013-009095

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  4 in total

1.  Chronic renal failure, end-stage renal disease, and peritoneal dialysis in Gitelman's syndrome.

Authors:  L Bonfante; P A Davis; M Spinello; A Antonello; A D'Angelo; A Semplicini; L Calò
Journal:  Am J Kidney Dis       Date:  2001-07       Impact factor: 8.860

Review 2.  Salt handling in the distal nephron: lessons learned from inherited human disorders.

Authors:  Nikola Jeck; Karl P Schlingmann; Stephan C Reinalter; Martin Kömhoff; Melanie Peters; Siegfried Waldegger; Hannsjörg W Seyberth
Journal:  Am J Physiol Regul Integr Comp Physiol       Date:  2005-04       Impact factor: 3.619

3.  Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter.

Authors:  D B Simon; C Nelson-Williams; M J Bia; D Ellison; F E Karet; A M Molina; I Vaara; F Iwata; H M Cushner; M Koolen; F J Gainza; H J Gitleman; R P Lifton
Journal:  Nat Genet       Date:  1996-01       Impact factor: 38.330

Review 4.  Gitelman syndrome.

Authors:  Nine V A M Knoers; Elena N Levtchenko
Journal:  Orphanet J Rare Dis       Date:  2008-07-30       Impact factor: 4.123

  4 in total
  2 in total

1.  Hypokalemia, hypomagnesemia, hypocalciuria, and recurrent tetany: Gitelman syndrome in a Chinese pedigree and literature review.

Authors:  Ming-Feng Xia; Hua Bian; Hong Liu; Hui-Juan Wu; Zhi-Gang Zhang; Zhi-Qiang Lu; Xin Gao
Journal:  Clin Case Rep       Date:  2017-03-17

Review 2.  Rare Renal Diseases Can Be Used as Tools to Investigate Common Kidney Disorders.

Authors:  Mariadelina Simeoni; Sara Damiano; Giovanna Capolongo; Francesco Trepiccione; Miriam Zacchia; Giorgio Fuiano; Giovambattista Capasso
Journal:  Kidney Dis (Basel)       Date:  2017-05-25
  2 in total

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