NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome

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...

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Bibliographic Details
Published in:Pediatric nephrology (Berlin, West) West), 2013-05, Vol.28 (5), p.751-757
Main Authors: Kerti, Andrea, Csohány, Rózsa, Szabó, Attila, Árkossy, Ottó, Sallay, Péter, Moriniére, Vincent, Vega-Warner, Virginia, Nyírő, Gábor, Lakatos, Orsolya, Szabó, Tamás, Lipska, Beata S., Schaefer, Franz, Antignac, Corinne, Reusz, George, Tulassay, Tivadar, Tory, Kálmán
Format: Article
Language:English
Subjects:
Adolescent
Adult
Age
Age of Onset
Child
Child, Preschool
DNA Mutational Analysis
Edema
Europe - epidemiology
Female
Gene Frequency
Gene mutations
Genetic aspects
Genetic Predisposition to Disease
Genetic Testing - methods
Genetics
Glomerular Filtration Rate
Haplotypes
Heterozygote
Homozygote
Humans
Infant
Intracellular Signaling Peptides and Proteins - genetics
Kidney - physiopathology
Kidney diseases
Laboratories
Male
Medicine
Medicine & Public Health
Membrane Proteins - genetics
Mutation
Mutation, Missense
Nephrology
Nephrotic syndrome
Nephrotic Syndrome - congenital
Nephrotic Syndrome - diagnosis
Nephrotic Syndrome - epidemiology
Nephrotic Syndrome - genetics
Nephrotic Syndrome - physiopathology
Original Article
Patients
Pediatrics
Phenotype
Physiological aspects
Proteinuria - genetics
Risk factors
Steroids
Urology
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Summary: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 (
ISSN:0931-041X
1432-198X
DOI:10.1007/s00467-012-2379-2