Abstract: PO1616
Case Report: Familial FSGS Associated with a Novel Variant of WT1
Session Information
- Genetic Diseases of the Kidneys: Non-Cystic - 1
October 22, 2020 | Location: On-Demand
Abstract Time: 10:00 AM - 12:00 PM
Category: Trainee Case Report
- 1002 Genetic Diseases of the Kidneys: Non-Cystic
Authors
- 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
Introduction
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).
Discussion
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.