Novel mutation patterns in children with steroid-resistant nephrotic syndrome

Area of Science:

• Pediatric Nephrology
• Genetics
• Genomics

Background:

• Idiopathic nephrotic syndrome (NS) in children presents treatment challenges.
• Steroid-resistant nephrotic syndrome (SRNS) affects a subset of these children.
• Genetic factors are implicated in SRNS, but Indian pediatric data are limited.

Purpose of the Study:

• To investigate genetic variants in Indian children with SRNS.
• To explore correlations between genetic findings and clinical outcomes.
• To inform personalized management strategies for pediatric SRNS.

Main Methods:

• Prospective, single-center study of children with SRNS (October 2018-April 2023).
• Inclusion of renal biopsy and whole-exome sequencing for genetic analysis.
• Collection of demographic, clinical, histological, and genetic data.

Main Results:

• 62 out of 96 (64.58%) participants had reportable genetic variants.
• COL4A gene variants were the most common (31.7% of variant-positive cases).
• Focal segmental glomerulosclerosis was observed in 74% of variant-positive and 57.1% of variant-negative cases.

Conclusions:

• Genetic analysis is crucial for pediatric SRNS, identifying variants in over 65% of cases.
• COL4A variants are predominant and correlate with renal outcomes.
• Findings support personalized medicine approaches and further research in pediatric SRNS management.