Genetics of Childhood Steroid Sensitive Nephrotic Syndrome: An Update
Date
2019
Authors
Lane, B.M.
Cason, R.
Esezobor, C.I.
Gbadegesin, R.A.
Journal Title
Journal ISSN
Volume Title
Publisher
Frontiers
Abstract
Advances in genome science in the last 20 years have led to the discovery of over
50 single gene causes and genetic risk loci for steroid resistant nephrotic syndrome
(SRNS). Despite these advances, the genetic architecture of childhood steroid sensitive
nephrotic syndrome (SSNS) remains poorly understood due in large part to the varying
clinical course of SSNS over time. Recent exome and genome wide association studies
from well-defined cohorts of children with SSNS identified variants in multiple MHC
class II molecules such as HLA-DQA1 and HLA-DQB1 as risk factors for SSNS, thus
stressing the central role of adaptive immunity in the pathogenesis of SSNS. However,
evidence suggests that unknown second hit risk loci outside of the MHC locus and
environmental factors also make significant contributions to disease. In this review, we
examine what is currently known about the genetics of SSNS, the implications of recent
findings on our understanding of pathogenesis of SSNS, and how we can utilize these
results and findings from future studies to improve the management of children with
nephrotic syndrome.
Description
Keywords
Nephrotic syndrome , SSNS , Podocyte , MHC class II locus , HLA DQ/DR
Citation
Lane, B.M.; Cason R.; Esezobor, C.I.; Gbadegesin, R.A. Genetics of Childhood Steroid Sensitive Nephrotic Syndrome: An Update (2019). Front Pediatr. 2019;7:8. doi: 10.3389/fped.2019.00008. eCollection 2019.