A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome

CE Sadowski, S Lovric, S Ashraf… - Journal of the …, 2015 - journals.lww.com
Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of ESRD in
the first two decades of life. Effective treatment is lacking. First insights into disease
mechanisms came from identification of single-gene causes of SRNS. However, the
frequency of single-gene causation and its age distribution in large cohorts are unknown.
We performed exon sequencing of NPHS2 and WT1 for 1783 unrelated, international
families with SRNS. We then examined all patients by microfluidic multiplex PCR and next …