Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome
SM Karle, B Uetz, V Ronner, L Glaeser… - Journal of the …, 2002 - journals.lww.com
Autosomal recessive steroid-resistant nephrotic syndrome (SRINS) belongs to the
heterogeneous group of familial nephrotic syndrome and represents a frequent cause of end-
stage renal disease in childhood. This kidney disorder is characterized by early onset of
proteinuria, progression to end-stage renal disease, and histologic findings of focal
segmental glomerulosclerosis, minimal change nephrotic syndrome, or both. A causative
gene, NPHS2, has been mapped to chromosome 1q25-q31 and was recently identified by …
heterogeneous group of familial nephrotic syndrome and represents a frequent cause of end-
stage renal disease in childhood. This kidney disorder is characterized by early onset of
proteinuria, progression to end-stage renal disease, and histologic findings of focal
segmental glomerulosclerosis, minimal change nephrotic syndrome, or both. A causative
gene, NPHS2, has been mapped to chromosome 1q25-q31 and was recently identified by …