A Puffy Child - A Rare Case of Steroid Resistant Nephrotic Syndrome with ANLN Mutation

Abstract

Recent advances in genomics have uncovered the molecular mechanisms involved in the broad spectrum of variation associated with steroid-resistant nephrotic syndrome. Over 50 monogenic causes of steroid-resistant nephrotic syndrome have been discovered; however, these genes are implicated in only a small proportion of cases. Using a combination of whole-exome sequencing and genome-wide linkage studies, a missense mutation in anillin (ANLN) has been identified as a cause of focal segmental glomerulosclerosis, a pattern of glomerular injury associated with steroid-resistant nephrotic syndrome. We report a case of 2-year-6-month-old male child, who presented with severe edema and oliguria for 6 weeks. He was found to be an early steroid non-responder, hence renal biopsy and genetic testing were ordered. These findings were in favour of focal segmental glomerulosclerosis, a common cause of childhood steroid-resistant nephrotic syndrome. It is important to identify the causative agent to avoid unnecessary immunosuppressive therapy and its associated risks.

Keywords: ANLN mutation; focal segmental glomerulosclerosis; renal transplantation; steroid-resistant nephrotic syndrome.