Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome.

ABSTRACT: Steroid-resistant nephrotic syndrome is a frequent cause of chronic kidney disease almost inevitably progressing to end-stage renal disease. More than 58 monogenic causes of SRNS have been discovered and majority of known steroid-resistant nephrotic syndrome causing genes are predominantly expressed in glomerular podocytes, placing them at the center of disease pathogenesis. Herein, we describe two unrelated families with steroid-resistant nephrotic syndrome with homozygous mutations in the KIRREL1 gene. One mutation showed high frequency in the European population (minor allele frequency 0.0011) and this patient achieved complete remission following treatment, but later progressed to chronic kidney disease. We found that mutant KIRREL1 proteins failed to localize to the podocyte cell memb

SUBMITTER: Solanki AK 

PROVIDER: S-EPMC6756928 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature