Atypical focal segmental glomerulosclerosis associated with a new PODXL nonsense variant.

ABSTRACT:

Background

Podocalyxin (PODXL) is a highly sialylated adhesion glycoprotein that plays an important role in podocyte's physiology. Recently, missense and nonsense dominant variants in the PODXL gene have been associated with focal segmental glomerulosclerosis (FSGS), a leading cause of nephrotic syndrome and kidney failure. Their histologic description, however, was superficial or absent.

Methods

We performed exome sequencing on a three-generation family affected by an atypical glomerular nephropathy and characterized the disease by light and electron microscopy.

Results

The disease was characterized by FSGS features and glomerular basement membrane duplication. Six family members displayed chronic proteinuria, ranging from mild manifestations without renal failure, t

SUBMITTER: Marx D 

PROVIDER: S-EPMC8172202 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature