Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome
RG Ruf, A Lichtenberger, SM Karle… - Journal of the …, 2004 - journals.lww.com
Nephrotic syndrome (NS) represents the association of proteinuria, hypoalbuminemia,
edema, and hyperlipidemia. Steroid-resistant NS (SRNS) is defined by primary resistance to
standard steroid therapy. It remains one of the most intractable causes of ESRD in the first
two decades of life. Mutations in the NPHS2 gene represent a frequent cause of SRNS,
occurring in approximately 20 to 30% of sporadic cases of SRNS. On the basis of a very
small number of patients, it was suspected that children with homozygous or compound …
edema, and hyperlipidemia. Steroid-resistant NS (SRNS) is defined by primary resistance to
standard steroid therapy. It remains one of the most intractable causes of ESRD in the first
two decades of life. Mutations in the NPHS2 gene represent a frequent cause of SRNS,
occurring in approximately 20 to 30% of sporadic cases of SRNS. On the basis of a very
small number of patients, it was suspected that children with homozygous or compound …