Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome

F Nevo, EL Esquivel, D Reklaityte… - Journal of the …, 2008 - journals.lww.com
Classically, infants with mutations in NPHS1, which encodes nephrin, present with nephrotic
syndrome within the first 3 mo of life (congenital nephrotic syndrome of the Finnish-type),
and children with mutations in NPHS2, which encodes podocin, present later with steroid-
resistant nephrotic syndrome. Recently, however, NPHS2 mutations have been identified in
children with congenital nephrotic syndrome. Whether NPHS1 mutations similarly account
for some cases of childhood steroid-resistant nephrotic syndrome is unknown. In this study …