Clinical Value of NPHS2 Analysis in Early- and Adult-Onset Steroid-Resistant Nephrotic Syndrome | Zendy

Sheila Santín | Zendy; Bárbara TazónVega | Zendy; Irene Silva | Zendy; María Ángeles Cobo | Zendy; Isabel Giménez | Zendy; Patricia Ruíz | Zendy; Rafael GarcíaMaset | Zendy; José Ballarín | Zendy; Roser Torrá | Zendy; Elisabet Ars | Zendy

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Clinical Value of NPHS2 Analysis in Early- and Adult-Onset Steroid-Resistant Nephrotic Syndrome

Author(s) -

Sheila Santín,

Bárbara TazónVega,

Irene Silva,

María Ángeles Cobo,

Isabel Giménez,

Patricia Ruíz,

Rafael GarcíaMaset,

José Ballarín,

Roser Torrá,

Elisabet Ars

Publication year - 2010

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.03770410

Subject(s) - medicine , nephrotic syndrome , haplotype , compound heterozygosity , allele , focal segmental glomerulosclerosis , odds ratio , gastroenterology , glomerulonephritis , genetics , biology , kidney , gene

To date, very few cases with adult-onset focal segmental glomerulosclerosis (FSGS) carrying NPHS2 variants have been described, all of them being compound heterozygous for the p.R229Q variant and one pathogenic mutation.

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