ASN's Mission

ASN leads the fight to prevent, treat, and cure kidney diseases throughout the world by educating health professionals and scientists, advancing research and innovation, communicating new knowledge, and advocating for the highest quality care for patients.

learn more

Contact ASN

1401 H St, NW, Ste 900, Washington, DC 20005


The Latest on Twitter

Kidney Week

Abstract: PO1616

Case Report: Familial FSGS Associated with a Novel Variant of WT1

Session Information

Category: Trainee Case Report

  • 1002 Genetic Diseases of the Kidneys: Non-Cystic


  • Stewart, Alexandra, Walter Reed National Military Medical Center, Bethesda, Maryland, United States
  • Thurlow, John Stephen, Walter Reed National Military Medical Center, Bethesda, Maryland, United States

The underlying causes of Familial FSGS are currently being elucidated by exome sequencing. WT1 has been reported in association with Frasier Syndrome, Denys-Drash syndrome and isolated nephrotic syndrome. WT1 variants have emerged as a common cause of autosomal dominant FSGS.

Case Description

We report a case of a 22 year old male who presented at age 17 with nephrotic range proteinuria progressing to ESRD over 4.5 years. His renal biopsy at that time revealed FSGS andExome sequencing (Next Generation Sequencing) demonstrated a WT1 variant of uncertain significance. Family history was significant for the following: mother with microalbuminuria (229mg/24hr on spot protein) and hypertension (onset 2 years prior to proteinuria); maternal uncle with congenital unilateral renal agenesis and later End Stage Kidney Disease requiring transplant at age 29 years; and maternal grandfather who died in his 60s on dialysis for unknown reasons. Genetic analysis in the patient and mother revealed the same heterozygous variant in WT1 (c.1078G>T, p.Gly360Cys).


WT1-related renal disease is associated with autosomal dominant inheritance. We strongly suspect the WT1 variant described was pathogenic, as evidenced by a family history of both FSGS and genitourinary tract malformations. We review the association of WT1 with nephrin and postulate a potential interaction with XY karyotype, similar to other WT-1 associated disease.

Disclosure: The views expressed are those of the authors and do not reflect the Department of Army or U.S. Government.