Genetic screening in adolescents with steroid-resistant nephrotic syndrome
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F13%3A10209606" target="_blank" >RIV/00064203:_____/13:10209606 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/13:10209606
Result on the web
<a href="http://dx.doi.org/10.1038/ki.2013.93" target="_blank" >http://dx.doi.org/10.1038/ki.2013.93</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1038/ki.2013.93" target="_blank" >10.1038/ki.2013.93</a>
Alternative languages
Result language
angličtina
Original language name
Genetic screening in adolescents with steroid-resistant nephrotic syndrome
Original language description
Genetic screening paradigms for congenital and infantile nephrotic syndrome are well established; however, screening in adolescents has received only minor attention. To help rectify this, we analyzed an unselected adolescent cohort of the internationalPodoNet registry to develop a rational screening approach based on 227 patients with nonsyndromic steroid-resistant nephrotic syndrome aged 10-20 years. Of these, 21% had a positive family history. Autosomal dominant cases were screened for WT1, TRPC6, ACTN4, and INF2 mutations. All other patients had the NPHS2 gene screened, and WT1 was tested in sporadic cases. In addition, 40 sporadic cases had the entire coding region of INF2 tested. Of the autosomal recessive and the sporadic cases, 13 and 6%, respectively, were found to have podocin-associated nephrotic syndrome, and 56% of them were compound heterozygous for the nonneutral p.R229Q polymorphism. Four percent of the sporadic and 10% of the autosomal dominant cases had a mutation in
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FG - Paediatrics
OECD FORD branch
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Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2013
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Kidney International
ISSN
0085-2538
e-ISSN
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Volume of the periodical
84
Issue of the periodical within the volume
1
Country of publishing house
US - UNITED STATES
Number of pages
8
Pages from-to
206-213
UT code for WoS article
000321044400026
EID of the result in the Scopus database
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