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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2004-7-15
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pubmed:abstractText |
Nephrotic syndrome (NS) represents the association of proteinuria, hypoalbuminemia, edema, and hyperlipidemia. Steroid-resistant nephrotic syndrome (SRNS) is defined by primary resistance to standard steroid therapy. It remains one of the most intractable causes for end-stage renal disease (ESRD) in the first two decades of life. Sporadic mutations in the Wilms' tumor suppressor gene WT1 have been found to be present in patients with SRNS in association with Wilms' tumor (WT) and urinary or genital malformations, as well as in patients with isolated SRNS.
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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 |
Aug
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pubmed:issn |
0085-2538
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pubmed:author |
pubmed-author:APN Study Group,
pubmed-author:BakkalogluAysinA,
pubmed-author:EverdingAnne SchulzeAS,
pubmed-author:FuchshuberArnoA,
pubmed-author:HaasJohannes PJP,
pubmed-author:HildebrandtFriedhelmF,
pubmed-author:ImmAnitaA,
pubmed-author:KarleStephanie MSM,
pubmed-author:LichtenbergerAnneA,
pubmed-author:MuchaBettinaB,
pubmed-author:NeuhausThomasT,
pubmed-author:OzaltinFatihF,
pubmed-author:PatzerLudwigL,
pubmed-author:PlankChristianC,
pubmed-author:RufRainer GRG,
pubmed-author:SchultheissMichaelM,
pubmed-author:ZalewskiIsabellaI
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pubmed:issnType |
Print
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pubmed:volume |
66
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
564-70
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pubmed:dateRevised |
2004-11-17
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pubmed:meshHeading |
pubmed-meshheading:15253707-Child,
pubmed-meshheading:15253707-Child, Preschool,
pubmed-meshheading:15253707-Cohort Studies,
pubmed-meshheading:15253707-Drug Resistance,
pubmed-meshheading:15253707-Exons,
pubmed-meshheading:15253707-Female,
pubmed-meshheading:15253707-Genotype,
pubmed-meshheading:15253707-Gonadoblastoma,
pubmed-meshheading:15253707-Humans,
pubmed-meshheading:15253707-Incidence,
pubmed-meshheading:15253707-Infant,
pubmed-meshheading:15253707-Male,
pubmed-meshheading:15253707-Mutation, Missense,
pubmed-meshheading:15253707-Neoplasms, Gonadal Tissue,
pubmed-meshheading:15253707-Nephrotic Syndrome,
pubmed-meshheading:15253707-Phenotype,
pubmed-meshheading:15253707-Prevalence,
pubmed-meshheading:15253707-Steroids,
pubmed-meshheading:15253707-Urogenital Abnormalities,
pubmed-meshheading:15253707-WT1 Proteins
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pubmed:year |
2004
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pubmed:articleTitle |
Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome.
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pubmed:affiliation |
Departments of Pediatrics and Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.
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pubmed:publicationType |
Journal Article
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