Abstract
Steroid-resistant nephrotic syndrome (SRNS) is one of the major causes of end-stage renal disease (ESRD) in childhood and is mostly associated with focal segmental glomerulosclerosis (FSGS). More than 50 monogenic causes of SRNS or FSGS have been identified. Recently, the mutation detection rate in pediatric patients with SRNS has been reported to be approximately 30%. In this study, genotype-phenotype correlations in a cohort of 291 Korean pediatric patients with SRNS/FSGS were analyzed. The overall mutation detection rate was 43.6% (127 of 291 patients). WT1 was the most common causative gene (23.6%), followed by COQ6 (8.7%), NPHS1 (8.7%), NUP107 (7.1%), and COQ8B (6.3%). Mutations in COQ6, NUP107, and COQ8B were more frequently detected, and mutations in NPHS2 were less commonly detected in this cohort than in study cohorts from Western countries. The mutation detection rate was higher in patients with congenital onset, those who presented with proteinuria or chronic kidney disease/ESRD, and those who did not receive steroid treatment. Genetic diagnosis in patients with SRNS provides not only definitive diagnosis but also valuable information for decisions on treatment policy and prediction of prognosis. Therefore, further genotype-phenotype correlation studies are required.
Highlights
Childhood onset nephrotic syndrome (NS) generally responds well to conventional oral corticosteroid therapy, and steroid-sensitive NS has a benign long-term renal prognosis even though it shows frequent relapses
During follow-up, 113 (38.8%) patients had maintained a normal estimated glomerular filtration rate, 29 (10.0%) patients progressed to chronic kidney disease (CKD) stages 2–4, and 144 (49.5%) patients progressed to end-stage renal disease (ESRD)
This study showed a higher mutation detection rate in patients who presented with proteinuria than in patients who presented with NS (57.0% versus 34.5%, p < 0.001)
Summary
Childhood onset nephrotic syndrome (NS) generally responds well to conventional oral corticosteroid therapy, and steroid-sensitive NS has a benign long-term renal prognosis even though it shows frequent relapses. 10–20% of pediatric NS cases are steroid-resistant nephrotic syndrome (SRNS), which does not achieve remission by oral corticosteroid therapy. SRNS is one of the most common causes of end-stage renal disease (ESRD) in childhood, and the common pathological finding in SRNS is focal segmental glomerulosclerosis (FSGS) [1]. Various kinds of syndromic diseases may manifest SRNS as a renal phenotype along with characteristic extrarenal phenotypes. At least 50 monogenic causes of SRNS or FSGS have been identified, and novel causative genes are constantly being discovered [2]
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