Source:http://linkedlifedata.com/resource/pubmed/id/17216259
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
4
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pubmed:dateCreated |
2007-2-23
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pubmed:abstractText |
Idiopathic nephrotic syndrome is a common pediatric kidney disease, 80% of all cases are steroid sensitive (SSNS). A significant proportion of children with SSNS will have a frequently relapsing or steroid-dependent course (FRNS/SDNS) that is associated with significant treatment-related morbidity. Mutations in NPHS2 account for more than 28% of all cases of steroid-resistant nephrotic syndrome (SRNS) and dominant mutations in WT1 for 5%; while mutations are absent from children with uncomplicated SSNS. Since FRNS/SDNS is phenotypically positioned within a spectrum between SSNS and SRNS, we hypothesized that heterozygous mutations of NPHS2 may be causing FRNS/SDNS. Mutational analysis of NPHS2 and WT1 was carried out in a single-center cohort of 20 children with FRNS/SDNS, ten children with uncomplicated SSNS (control), and 22 children with SRNS (control). Renal biopsy findings were available in 15/20 children with FRNS/SDNS and revealed IgM nephropathy, MCNS, and FSGS in six, five, and four children, respectively. Children with FRNS/SDNS were significantly younger at first presentation than those with SSNS and SRNS (median age: 3.0 years in FRNS/SDNS patients, 7.0 years in SSNS patients, and 5.0 in SRNS patients; p < 0.001). No NPHS2 or WT1 mutations were found in patients with FRNS/SDNS and uncomplicated SSNS. The hypothesis that FRNS/SDNS may be associated with heterozygous mutations in NPHS2 or WT1 was not confirmed.
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pubmed:grant | |
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/Intracellular Signaling Peptides...,
http://linkedlifedata.com/resource/pubmed/chemical/Membrane Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/NPHS2 protein,
http://linkedlifedata.com/resource/pubmed/chemical/Steroids,
http://linkedlifedata.com/resource/pubmed/chemical/WT1 Proteins
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
0931-041X
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
22
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
509-13
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:17216259-Adolescent,
pubmed-meshheading:17216259-Child,
pubmed-meshheading:17216259-Child, Preschool,
pubmed-meshheading:17216259-DNA Mutational Analysis,
pubmed-meshheading:17216259-Female,
pubmed-meshheading:17216259-Heterozygote,
pubmed-meshheading:17216259-Homozygote,
pubmed-meshheading:17216259-Humans,
pubmed-meshheading:17216259-Infant,
pubmed-meshheading:17216259-Intracellular Signaling Peptides and Proteins,
pubmed-meshheading:17216259-Male,
pubmed-meshheading:17216259-Membrane Proteins,
pubmed-meshheading:17216259-Mutation,
pubmed-meshheading:17216259-Nephrotic Syndrome,
pubmed-meshheading:17216259-Polymerase Chain Reaction,
pubmed-meshheading:17216259-Recurrence,
pubmed-meshheading:17216259-Steroids,
pubmed-meshheading:17216259-WT1 Proteins
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pubmed:year |
2007
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pubmed:articleTitle |
Mutational analysis of NPHS2 and WT1 in frequently relapsing and steroid-dependent nephrotic syndrome.
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pubmed:affiliation |
Department of Pediatrics, Division of Nephrology, Ann Arbor, MI 48109, USA.
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pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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