Literature DB >> 29871959

Differential diagnosis for chronic hypokalaemia.

Laura Stimson1, Tim Reynolds2.   

Abstract

Doctors will often see patients with chronic hypokalaemia, frequently this is secondary to gastrointestinal losses, diuretics or renal disease. However, in this case report we review a rarer cause of chronic hypokalaemia-Gitelman syndrome (GS).GS is an uncommon genetic disorder which causes primary renal tubular hypokalaemic metabolic alkalosis with secondary hypomagnesaemia and hypocalciuria. Although rare, it is important to remember GS when considering differential diagnoses for chronic hypokalaemia. We report the case of a woman who presented to the ophthalmology department with sclerochoroidal calcification. An ophthalmologist was reviewing the medical literature, which prompted them to investigate for GS. A diagnosis was formed at that time based on the blood and urine chemistry results. However, later we were able to offer the patient genetic testing, which confirmed our provisional diagnosis. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Entities:  

Keywords:  fluid electrolyte And acid-base disturbances; genetic screening / counselling; renal system

Mesh:

Substances:

Year:  2018        PMID: 29871959      PMCID: PMC5990109          DOI: 10.1136/bcr-2017-223680

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


  7 in total

Review 1.  Gitelman's syndrome: a pathophysiological and clinical update.

Authors:  Farid Nakhoul; Nakhoul Nakhoul; Evgenia Dorman; Liron Berger; Karl Skorecki; Daniella Magen
Journal:  Endocrine       Date:  2011-11-15       Impact factor: 3.633

2.  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

3.  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

4.  Sclerochoroidal calcification: clinical manifestations and systemic associations.

Authors:  S G Honavar; C L Shields; H Demirci; J A Shields
Journal:  Arch Ophthalmol       Date:  2001-06

5.  Indomethacin, amiloride, or eplerenone for treating hypokalemia in Gitelman syndrome.

Authors:  Anne Blanchard; Rosa Vargas-Poussou; Marion Vallet; Aurore Caumont-Prim; Julien Allard; Estelle Desport; Laurence Dubourg; Matthieu Monge; Damien Bergerot; Stéphanie Baron; Marie Essig; Frank Bridoux; Ivan Tack; Michel Azizi
Journal:  J Am Soc Nephrol       Date:  2014-07-10       Impact factor: 10.121

6.  Gitelman's syndrome (familial hypokalemia-hypomagnesemia).

Authors:  M Gjata; M Tase; A Gjata; Zh Gjergji
Journal:  Hippokratia       Date:  2007-07       Impact factor: 0.471

Review 7.  Gitelman syndrome.

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

  7 in total

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