Novel mutation patterns in children with steroid-resistant nephrotic syndrome.

Narayan PrasadJeyakumar MeyyappanManoj DhanorkarRavi KushwahaKausik MandalVamsidhar VeerankiManas Ranjan BeheraManas PatelBrijesh YadavDharmendra BhadauriaAnupama KaulMonika YacchaMansi BhattVinita AgarwalMonoj Jain

Published in: Clinical kidney journal (2024)

The study underscores the importance of genetic analysis in paediatric SRNS, revealing variants in 65.7% of cases. COL4A variants were predominant. Variants correlated with varied renal outcomes, highlighting potential prognostic implications. These findings emphasize the value of personalized approaches and further research in managing paediatric SRNS.

Keyphrases

copy number
intensive care unit
emergency department
dna methylation
genome wide
metabolic syndrome
adipose tissue
skeletal muscle
risk assessment
weight loss