Kivonat:
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.
