Genetic mutation patterns in Indonesian children with primary steroid-resistant nephrotic syndrome

The authors aimed to investigate the genetic mutation patterns in Indonesian children with primary steroid-resistant nephrotic syndrome (SRNS) and assess the relationship between these genetic findings and clinical features. Through whole-exome sequencing of 60 children, they identified pathogenic variants in 15% of cases, revealing significant genetic and phenotypic diversity, and highlighting the importance of integrating genetic testing into the evaluation of SRNS, particularly in atypical or early-onset cases.