Focal segmental glomerulosclerosis in a female patient with Donnai-Barrow syndrome.

摘要

We present renal biopsy findings in an 11-year-old female with Donnai-Barrow syndrome (DBS) who presented with nephrotic range proteinuria. She is the first patient with a low-density lipoprotein receptor-related protein 2 (LRP2) mutation described with focal segmental glomerulosclerosis (FSGS). The findings suggest that proteinuria found in other DBS patients might not be innocuous.