Back to Search
Start Over
NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.
- Source :
-
Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2013 May; Vol. 28 (5), pp. 751-7. Date of Electronic Publication: 2012 Dec 14. - Publication Year :
- 2013
-
Abstract
- 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.<br />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.<br />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.<br />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.
- Subjects :
- Adolescent
Adult
Age of Onset
Child
Child, Preschool
DNA Mutational Analysis
Europe epidemiology
Female
Gene Frequency
Genetic Predisposition to Disease
Genetic Testing methods
Glomerular Filtration Rate
Haplotypes
Heterozygote
Homozygote
Humans
Infant
Kidney physiopathology
Male
Nephrotic Syndrome diagnosis
Nephrotic Syndrome epidemiology
Nephrotic Syndrome genetics
Nephrotic Syndrome physiopathology
Phenotype
Proteinuria genetics
Intracellular Signaling Peptides and Proteins genetics
Membrane Proteins genetics
Mutation, Missense
Nephrotic Syndrome congenital
Subjects
Details
- Language :
- English
- ISSN :
- 1432-198X
- Volume :
- 28
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Pediatric nephrology (Berlin, Germany)
- Publication Type :
- Academic Journal
- Accession number :
- 23242530
- Full Text :
- https://doi.org/10.1007/s00467-012-2379-2