Clinical and genetic evaluation of familial steroid-responsive nephrotic syndrome in childhood
A Fuchshuber, O Gribouval, V Ronner… - Journal of the …, 2001 - journals.lww.com
Steroid-responsive idiopathic nephrotic syndrome (SSINS) is the most common form of
nephrotic syndrome in childhood. This article reports a cohort of familial SSINS with disease
onset in childhood. The clinical course in terms of age at onset, symptoms during the initial
phase, renal morphology, and outcome was evaluated. Furthermore, linkage to NPHS2, the
gene for autosomal-recessive steroid-resistant INS on chromosome 1, was examined. Two
families with haplotypes consistent with linkage to NPHS2 were evaluated for mutations in …
nephrotic syndrome in childhood. This article reports a cohort of familial SSINS with disease
onset in childhood. The clinical course in terms of age at onset, symptoms during the initial
phase, renal morphology, and outcome was evaluated. Furthermore, linkage to NPHS2, the
gene for autosomal-recessive steroid-resistant INS on chromosome 1, was examined. Two
families with haplotypes consistent with linkage to NPHS2 were evaluated for mutations in …
