Wcn24-1148 a Novel Mutation at C.1993c>t in Exon 16 of the Daam2 Gene Causing Steroid Resistant Nephrotic Syndrome Achieving Long Term Remission Following Rituximab Therapy

Steroid Resistant nephrotic syndrome (SRNS) is characterized by proteinuria, hypoalbuminemia, edema, and hyperlipidemia, with an absence of response to an initial trial of six weeks of corticosteroids. It is an important cause of chronic kidney disease in the paediatric population. There are more than 60 monogenic variants causing SRNS and most are expressed in the glomerular podocytes. DAAM2 variants are implicated in causing Type 24 SRNS probably through actin dysregulation. Here, we describe a child with SRNS, found to have a novel mutation at c.1993c>T in exon 16 of the DAAM2 gene who responded well to Rituximab therapy.