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001-es BibID:	BIBFORM040891
Első szerző:	Kerti Andrea
Cím:	NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome / Andrea Kerti, Rózsa Csohány, Attila Szabó, Ottó Árkossy, Péter Sallay, Vincent Moriniére, Virginia Vega-Warner, Gábor Nyírő, Orsolya Lakatos, Tamás Szabó, Beata S. Lipska, Franz Schaefer, Corinne Antignac, George Reusz, Tivadar Tulassay, Kálmán Tory
Dátum:	2013
Megjegyzések:	BACKGROUND: The most frequently mutated gene of steroid-resistant nephrotic syndrome (SRNS) is NPHS2. Current guidelines propose the sequencing of all NPHS2 exons only in childhood-onset SRNS. METHODS: A cohort of 38 Hungarian patients with childhood-onset nephrotic-range proteinuria was screened for NPHS2 mutations. The frequency of the p.V290M mutation in late-onset SRNS was examined in the French and PodoNet cohorts. RESULTS: Of the 38 Hungarian patients screened, seven carried NPHS2 mutations on both alleles, of whom two-diagnosed with proteinuria through school screening programs at the age of 9.7 and 14 years, respectively-did not develop nephrotic syndrome in childhood. The first, an 18-year-old boy, homozygous for p.V290M, has never developed edema. The second, a 31-year-old woman-compound heterozygous for p.V290M and p.R138Q-was first detected with hypoalbuminemia (<30 g/l) and edema at the age of 24.3 and 27.5 years, respectively. Both patients currently have a normal glomerular filtration rate. The mutation p.V290M was carried by three of the 38 patients in the Hungarian cohort, by two of the 95 patients with late-onset SRNS in the PodoNet cohort and by none of the 83 patients in the French cohort. CONCLUSIONS: We propose that not only the p.R229Q variant, but also the p.V290M mutation should be screened in Central and Eastern European patients with late-onset SRNS.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	Pediatric Nephrology. - 28 : 5 (2013), P. 751-757. -
További szerzők:	Csohány Rózsa Szabó Attila (gyermekgyógyász Budapest) Árkossy Ottó Sallay Péter Moriniére, Vincent Vega-Warner Virginia Nyírő Gábor (molekuláris biológus) Lakatos Orsolya Szabó Tamás (1968-) (gyermekgyógyász) Lipska, Beata S. Schaefer, Franz Antignac, Corinne Reusz György Tulassay Tivadar Tory Kálmán
Pályázati támogatás:	4.2.1/B-09/1/KMR-2010-0001 TÁMOP 84087/2010 OTKA Magyary Zoltán fellowship for KT Egyéb Bólyai János research fellowship MTA
Internet cím:	DOI Szerző által megadott URL Intézményi repozitóriumban (DEA) tárolt változat
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