Document Detail


A case of Gitelman's syndrome presenting with extreme hypokalaemia and paralysis.
MedLine Citation:
PMID:  18523931     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Gitelman's syndrome is an autosomal recessive disorder caused by various mutations of the thiazide- sensitive sodium chloride cotransporter gene. Hypokalaemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria are major clinical features of the syndrome. The onset of the disease is in early adulthood with a mild muscle weakness complaint or incidentally diagnosed hypokalaemia by blood test. However, it has a significant impact on quality of life of patients. Rarely, patients with Gitelman's syndrome may present with hypokalaemic paralysis. Profound hypokalaemia is uncommon in Gitelman's syndrome. Here we report a case of Gitelman's syndrome, who presented with hypokalaemic paralysis and extreme hypokalaemia. To the best of our knowledge, after a Medline search, this is the most severe hypokalaemia described in a patient with Gitelman's syndrome.
Authors:
B Akinci; A Celik; F Saygili; S Yesil
Publication Detail:
Type:  Case Reports; Journal Article     Date:  2008-06-03
Journal Detail:
Title:  Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association     Volume:  117     ISSN:  1439-3646     ISO Abbreviation:  Exp. Clin. Endocrinol. Diabetes     Publication Date:  2009 Feb 
Date Detail:
Created Date:  2009-02-05     Completed Date:  2009-06-26     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9505926     Medline TA:  Exp Clin Endocrinol Diabetes     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  69-71     Citation Subset:  IM    
Affiliation:
Division of Endocrinology and Metabolism, Dokuz Eylul University Medical School, Izmir, Turkey. baris.akinci@deu.edu.tr
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Gitelman Syndrome / blood*,  complications*
Humans
Hypokalemia / blood*,  complications*
Male
Paralysis / blood*,  complications*

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