Open AccessClinical Utility of Genetic Testing in Children and Adults with Steroid-Resistant Nephrotic Syndrome
Author(s) -
Sheila Santín,
Gemma Bullich,
Bárbara TazónVega,
Rafael GarcíaMaset,
Isabel Giménez,
Irene Silva,
Patricia Ruíz,
José Ballarín,
Roser Torrá,
Elisabet Ars
Publication year - 2011
Publication title -
clinical journal of the american society of nephrology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.755
H-Index - 151
eISSN - 1555-905X
pISSN - 1555-9041
DOI - 10.2215/cjn.05260610
Subject(s) - medicine , congenital nephrotic syndrome , nephrotic syndrome , genetic testing , mutation , compound heterozygosity , exon , genetics , gene , kidney , biology , proteinuria
The increasing number of podocyte-expressed genes implicated in steroid-resistant nephrotic syndrome (SRNS), the phenotypic variability, and the uncharacterized relative frequency of mutations in these genes in pediatric and adult patients with SRNS complicate their routine genetic analysis. Our aim was to compile the clinical and genetic data of eight podocyte genes analyzed in 110 cases (125 patients) with SRNS (ranging from congenital to adult onset) to provide a genetic testing approach.
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