Spectrum of steroid-resistant and congenital nephrotic syndrome in children: the PodoNet registry cohort.

Autor:	Trautmann A; Due to the number of contributing authors, the affiliations are provided in the Supplemental Material., Bodria M; Due to the number of contributing authors, the affiliations are provided in the Supplemental Material., Ozaltin F; Due to the number of contributing authors, the affiliations are provided in the Supplemental Material., Gheisari A; Due to the number of contributing authors, the affiliations are provided in the Supplemental Material., Melk A; Due to the number of contributing authors, the affiliations are provided in the Supplemental Material., Azocar M; Due to the number of contributing authors, the affiliations are provided in the Supplemental Material., Anarat A; Due to the number of contributing authors, the affiliations are provided in the Supplemental Material., Caliskan S; Due to the number of contributing authors, the affiliations are provided in the Supplemental Material., Emma F; Due to the number of contributing authors, the affiliations are provided in the Supplemental Material., Gellermann J; Due to the number of contributing authors, the affiliations are provided in the Supplemental Material., Oh J; Due to the number of contributing authors, the affiliations are provided in the Supplemental Material., Baskin E; Due to the number of contributing authors, the affiliations are provided in the Supplemental Material., Ksiazek J; Due to the number of contributing authors, the affiliations are provided in the Supplemental Material., Remuzzi G; Due to the number of contributing authors, the affiliations are provided in the Supplemental Material., Erdogan O; Due to the number of contributing authors, the affiliations are provided in the Supplemental Material., Akman S; Due to the number of contributing authors, the affiliations are provided in the Supplemental Material., Dusek J; Due to the number of contributing authors, the affiliations are provided in the Supplemental Material., Davitaia T; Due to the number of contributing authors, the affiliations are provided in the Supplemental Material., Özkaya O; Due to the number of contributing authors, the affiliations are provided in the Supplemental Material., Papachristou F; Due to the number of contributing authors, the affiliations are provided in the Supplemental Material., Firszt-Adamczyk A; Due to the number of contributing authors, the affiliations are provided in the Supplemental Material., Urasinski T; Due to the number of contributing authors, the affiliations are provided in the Supplemental Material., Testa S; Due to the number of contributing authors, the affiliations are provided in the Supplemental Material., Krmar RT; Due to the number of contributing authors, the affiliations are provided in the Supplemental Material., Hyla-Klekot L; Due to the number of contributing authors, the affiliations are provided in the Supplemental Material., Pasini A; Due to the number of contributing authors, the affiliations are provided in the Supplemental Material., Özcakar ZB; Due to the number of contributing authors, the affiliations are provided in the Supplemental Material., Sallay P; Due to the number of contributing authors, the affiliations are provided in the Supplemental Material., Cakar N; Due to the number of contributing authors, the affiliations are provided in the Supplemental Material., Galanti M; Due to the number of contributing authors, the affiliations are provided in the Supplemental Material., Terzic J; Due to the number of contributing authors, the affiliations are provided in the Supplemental Material., Aoun B; Due to the number of contributing authors, the affiliations are provided in the Supplemental Material., Caldas Afonso A; Due to the number of contributing authors, the affiliations are provided in the Supplemental Material., Szymanik-Grzelak H; Due to the number of contributing authors, the affiliations are provided in the Supplemental Material., Lipska BS; Due to the number of contributing authors, the affiliations are provided in the Supplemental Material., Schnaidt S; Due to the number of contributing authors, the affiliations are provided in the Supplemental Material., Schaefer F; Due to the number of contributing authors, the affiliations are provided in the Supplemental Material. franz.schaefer@med.uni-heidelberg.de.
Jazyk:	angličtina
Zdroj:	Clinical journal of the American Society of Nephrology : CJASN [Clin J Am Soc Nephrol] 2015 Apr 07; Vol. 10 (4), pp. 592-600. Date of Electronic Publication: 2015 Jan 29.
DOI:	10.2215/CJN.06260614
Abstrakt:	Background and Objectives: Steroid-resistant nephrotic syndrome is a rare kidney disease involving either immune-mediated or genetic alterations of podocyte structure and function. The rare nature, heterogeneity, and slow evolution of the disorder are major obstacles to systematic genotype-phenotype, intervention, and outcome studies, hampering the development of evidence-based diagnostic and therapeutic concepts. To overcome these limitations, the PodoNet Consortium has created an international registry for congenital nephrotic syndrome and childhood-onset steroid-resistant nephrotic syndrome. Design, Setting, Participants, & Measurements: Since August of 2009, clinical, biochemical, genetic, and histopathologic information was collected both retrospectively and prospectively from 1655 patients with childhood-onset steroid-resistant nephrotic syndrome, congenital nephrotic syndrome, or persistent subnephrotic proteinuria of likely genetic origin at 67 centers in 21 countries through an online portal. Results: Steroid-resistant nephrotic syndrome manifested in the first 5 years of life in 64% of the patients. Congenital nephrotic syndrome accounted for 6% of all patients. Extrarenal abnormalities were reported in 17% of patients. The most common histopathologic diagnoses were FSGS (56%), minimal change nephropathy (21%), and mesangioproliferative GN (12%). Mutation screening was performed in 1174 patients, and a genetic disease cause was identified in 23.6% of the screened patients. Among 14 genes with reported mutations, abnormalities in NPHS2 (n=138), WT1 (n=48), and NPHS1 (n=41) were most commonly identified. The proportion of patients with a genetic disease cause decreased with increasing manifestation age: from 66% in congenital nephrotic syndrome to 15%-16% in schoolchildren and adolescents. Among various intensified immunosuppressive therapy protocols, calcineurin inhibitors and rituximab yielded consistently high response rates, with 40%-45% of patients achieving complete remission. Confirmation of a genetic diagnosis but not the histopathologic disease type was strongly predictive of intensified immunosuppressive therapy responsiveness. Post-transplant disease recurrence was noted in 25.8% of patients without compared with 4.5% (n=4) of patients with a genetic diagnosis. Conclusions: The PodoNet cohort may serve as a source of reference for future clinical and genetic research in this rare but significant kidney disease. (Copyright © 2015 by the American Society of Nephrology.)
Databáze:	MEDLINE
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