Literature DB >> 21161146

[Salt appetite, cramps and palpitations in a 21-year old medical secretary].

D Kitterer1, N Braun, M D Alscher, M Kimmel.   

Abstract

Hypokalemia is a common finding. The clinical presentation can be paralyses and cardiac arrhythmias. We present a normotensive young woman with salt appetite, cramps and palpitations. In our case report the patient shows a positive family history for hypopotassemia, a metabolic alkalosis with hypotension, and hypocalciuria with an increased urinary potassium loss. The levels of renin and aldosterone were elevated. After a negative testing for metabolites of diuretics, we obtained a positive result of the suspected SLC12A3 genetic test. This mutation leads to a failure of the thiazide-sensitive sodium-2-chloride-cotransporter, the so called Gitelman syndrome, which presents similar to a chronic thiazide therapy. The Gitelman syndrome is a rare disease with renal potassium loss and hypotension. Especially in young patients around the age of twenty or in patients with chronic intractable hypopotassemia a Gitelman syndrome should be considered.

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Year:  2011        PMID: 21161146     DOI: 10.1007/s00108-010-2777-0

Source DB:  PubMed          Journal:  Internist (Berl)        ISSN: 0020-9554            Impact factor:   0.743


  9 in total

Review 1.  Hypomagnesemia and chondrocalcinosis in Bartter's and Gitelman's syndrome: review of the pathogenetic mechanisms.

Authors:  L Calò; L Punzi; A Semplicini
Journal:  Am J Nephrol       Date:  2000 Sep-Oct       Impact factor: 3.754

2.  Gitelman syndrome.

Authors:  Mattias Roser; Nermin Eibl; Birgit Eisenhaber; Jasmin Seringer; Mato Nagel; Sylvia Nagorka; Friedrich C Luft; Ulrich Frei; Maik Gollasch
Journal:  Hypertension       Date:  2009-04-06       Impact factor: 10.190

3.  Eplerenone in the treatment of Gitelman's syndrome.

Authors:  A Morton
Journal:  Intern Med J       Date:  2008-05       Impact factor: 2.048

4.  Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life.

Authors:  D N Cruz; A J Shaer; M J Bia; R P Lifton; D B Simon
Journal:  Kidney Int       Date:  2001-02       Impact factor: 10.612

5.  Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family.

Authors:  Karl P Schlingmann; Stefanie Weber; Melanie Peters; Lene Niemann Nejsum; Helga Vitzthum; Karin Klingel; Markus Kratz; Elie Haddad; Ellinor Ristoff; Dganit Dinour; Maria Syrrou; Søren Nielsen; Martin Sassen; Siegfried Waldegger; Hannsjörg W Seyberth; Martin Konrad
Journal:  Nat Genet       Date:  2002-05-28       Impact factor: 38.330

6.  Enhanced passive Ca2+ reabsorption and reduced Mg2+ channel abundance explains thiazide-induced hypocalciuria and hypomagnesemia.

Authors:  Tom Nijenhuis; Volker Vallon; Annemiete W C M van der Kemp; Johannes Loffing; Joost G J Hoenderop; René J M Bindels
Journal:  J Clin Invest       Date:  2005-05-12       Impact factor: 14.808

7.  A new familial disorder characterized by hypokalemia and hypomagnesemia.

Authors:  H J Gitelman; J B Graham; L G Welt
Journal:  Trans Assoc Am Physicians       Date:  1966

Review 8.  The molecular basis of inherited hypokalemic alkalosis: Bartter's and Gitelman's syndromes.

Authors:  D B Simon; R P Lifton
Journal:  Am J Physiol       Date:  1996-11

Review 9.  Gitelman syndrome.

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

  9 in total

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