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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
12
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pubmed:dateCreated |
2008-11-25
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pubmed:abstractText |
Familial renal glucosuria (FRG) is a rare renal tubular disorder caused by mutations within the SLC5A2 gene. It is characterized by persistent glucosuria in the absence of hyperglycaemia and any other signs of generalized tubular dysfunction. In small series of patients previously reported, the molecular and phenotypic findings in FRG families, including first hints of extracellular volume depletion and activation of the renin-angiotensin-aldosterone system induced by natriuresis, have been described. We have now extended this analysis to another 21 consecutive cases from 17 pedigrees, including 11 cases with severe glucose excretion.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
1460-2385
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pubmed:author |
pubmed-author:BrinkertFlorianF,
pubmed-author:CaladoJoaquimJ,
pubmed-author:GreilJohannJ,
pubmed-author:HoganMarie CMC,
pubmed-author:KattamisAntonisA,
pubmed-author:KemperMarkus JMJ,
pubmed-author:MetzgerDanielD,
pubmed-author:SanterRenéR,
pubmed-author:ScharfMauroM,
pubmed-author:SznajerYvesY,
pubmed-author:TasicVeliborV,
pubmed-author:ToyaSS
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pubmed:issnType |
Electronic
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pubmed:volume |
23
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
3874-9
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pubmed:meshHeading |
pubmed-meshheading:18622023-Alleles,
pubmed-meshheading:18622023-Amino Acid Sequence,
pubmed-meshheading:18622023-Amino Acid Substitution,
pubmed-meshheading:18622023-DNA Mutational Analysis,
pubmed-meshheading:18622023-Female,
pubmed-meshheading:18622023-Glucose,
pubmed-meshheading:18622023-Glycosuria, Renal,
pubmed-meshheading:18622023-Heterozygote,
pubmed-meshheading:18622023-Homozygote,
pubmed-meshheading:18622023-Humans,
pubmed-meshheading:18622023-Male,
pubmed-meshheading:18622023-Molecular Sequence Data,
pubmed-meshheading:18622023-Mutation,
pubmed-meshheading:18622023-Mutation, Missense,
pubmed-meshheading:18622023-Pedigree,
pubmed-meshheading:18622023-Renin-Angiotensin System,
pubmed-meshheading:18622023-Sequence Homology, Amino Acid,
pubmed-meshheading:18622023-Sodium-Glucose Transporter 2
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pubmed:year |
2008
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pubmed:articleTitle |
Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion.
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pubmed:affiliation |
Departamento de Genética da Faculdade de Ciências Médicas, Instituto de Higiene e Medicina Tropical, Universidade Nova de Lisboa, Lisbon, Portugal. jcalado.gene@fcm.unl.pt
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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