Document Detail

Gitelman syndrome: first report of genetically established diagnosis in Greece.
MedLine Citation:
PMID:  20411059     Owner:  NLM     Status:  PubMed-not-MEDLINE    
Gitelman syndrome is an inherited renal tubular disorder characterized by hypokalemic metabolic alkalosis. It is distinguished from other hypokalemic tubulopathies, such as Bartter syndrome, by the presence of both hypomagnesemia and hypocalciuria. We report a case of Gitelman syndrome in a 10-year-old girl who presented for examination of persistent unexplained hypokalemia. She had no severe clinical symptoms but she had typical laboratory findings including hypokalemia, hypomagnesemia and normocalcemic hypocalciuria. Molecular analysis revealed a mutation in the exon 21 of the SLC12A3 gene which encodes the thiazide-sensitive sodium-chloride co-transporter expressed in the distal convoluted tubule (a guanine to adenosine substitution at nucleotide 2538). She was treated with oral potassium and magnesium supplements. This is the first report of genetically established diagnosis in Greece. Gitelman syndrome should be considered as a cause of persistent hypokalemia and genetic analysis might be a useful tool to confirm the diagnosis.
A Galli-Tsinopoulou; M Patseadou; A Hatzidimitriou; P Kokka; E Emmanouilidou; S H Lin; D Tramma
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Hippokratia     Volume:  14     ISSN:  1790-8019     ISO Abbreviation:  Hippokratia     Publication Date:  2010 Jan 
Date Detail:
Created Date:  2010-04-22     Completed Date:  2010-06-17     Revised Date:  2013-05-29    
Medline Journal Info:
Nlm Unique ID:  101296613     Medline TA:  Hippokratia     Country:  Greece    
Other Details:
Languages:  eng     Pagination:  42-4     Citation Subset:  -    
4th Department of Paediatrics, Medical School, Aristotle University of Thessaloniki, and General Hospital Papageorgiou, Thessaloniki, Greece.
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