Source:http://linkedlifedata.com/resource/pubmed/id/20442690
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
2
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pubmed:dateCreated |
2010-7-15
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pubmed:abstractText |
In Chinese children with steroid-resistant nephrotic syndrome (SRNS), it was reported that NPHS2 mutation was detected in 4.3%, which was lower than that in Caucasians (10-30%). However, there were no data on WT1 mutation in nephrotic syndrome (NS), especially in early-onset NS of Chinese children. Thus, a study, which enrolled 36 Chinese children with early-onset (before 3 y old) NS and steroid resistance if failing steroid therapy (early-group), was conducted. As control, 35 children with SRNS and with disease onset age after 3 y old were also analyzed (control-group). WT1 gene was examined by PCR and direct sequencing. The result showed that in the early-group 6/36 (16.7%) were detected with WT1 mutations. Further analysis according to different onset age revealed that the mutation detection rates of WT1 were 26.3% (5/19), 6.3% (1/16), and 0 (0/1) in children younger than 1 y, 1-2 y, and 2-3 y, respectively. In control-group, no WT1 (0/35) mutation was detected. WT1 mutation combined with NPHS2 variant was detected in a girl. In conclusion, WT1 mutations seemed more common in Chinese children with early-onset NS.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
1530-0447
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pubmed:author | |
pubmed:issnType |
Electronic
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pubmed:volume |
68
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
155-8
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pubmed:meshHeading |
pubmed-meshheading:20442690-Age of Onset,
pubmed-meshheading:20442690-Asian Continental Ancestry Group,
pubmed-meshheading:20442690-Child, Preschool,
pubmed-meshheading:20442690-Female,
pubmed-meshheading:20442690-Humans,
pubmed-meshheading:20442690-Infant,
pubmed-meshheading:20442690-Karyotyping,
pubmed-meshheading:20442690-Male,
pubmed-meshheading:20442690-Mutation,
pubmed-meshheading:20442690-Nephrotic Syndrome,
pubmed-meshheading:20442690-Steroids,
pubmed-meshheading:20442690-WT1 Proteins
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pubmed:year |
2010
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pubmed:articleTitle |
WT1 gene mutations in Chinese children with early onset nephrotic syndrome.
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pubmed:affiliation |
Department of Pediatrics, Peking University First Hospital, Beijing 100034, People's Republic of China.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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