Waardenburg syndrome-associated focal segmental glomerulosclerosis: A rare presentation

Abstract

Waardenburg syndrome (WS) is characterized by auditory and pigmentary disorders with an incidence of 1:40,000. Renal involvement is rare in WS. A 10-year-old male, diagnosed as nephrotic syndrome at 4 years, was presented in relapse. A renal biopsy performed at 6 years revealed evidence of focal segmental glomerulosclerosis. The child had morphological findings which were suggestive of WS. Hence, a diagnosis of WS type 1, with frequently relapsing nephrotic syndrome, was made. The possible genetic basis of renal involvement in WS needs to be evaluated.