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Abstract: FR-PO669

A Pediatric Patient with Proteinuria and Hepatic Steatosis

Session Information

  • Pediatric Nephrology - II
    November 03, 2023 | Location: Exhibit Hall, Pennsylvania Convention Center
    Abstract Time: 10:00 AM - 12:00 PM

Category: Pediatric Nephrology

  • 1900 Pediatric Nephrology


  • Order, Kaitlyn, Boston Children's Hospital, Boston, Massachusetts, United States
  • Daga, Ankana, Boston Children's Hospital, Boston, Massachusetts, United States

Frasier syndrome is a rare but well described disorder arising from a donor splice site mutation in intron 9 of the Wilms Tumor 1 (WT1) gene. It is associated with steroid resistant nephrotic syndrome and progression to ESRD. Patients with Frasier syndrome are characteristically phenotypic females with an XY genotype, streak ovaries and a risk for gonadoblastoma. Here we describe an XX pediatric patient with WT1 mutation characteristic of Frasier syndrome and an incidental finding of hepatic steatosis.

Case Description

A six year old obese female was referred to nephrology after two years of progressive isolated proteinuria; dipstick of 3+ and UPC of 2.5 mg/mg at time of referral. She had no overt edema. Her serum albumin and creatinine were normal at 4.0 g/dL and 0.48 mg/dL respectively, and labs were notable for transaminitis with AST 56/ ALT 126. Ultrasound demonstrated normal kidneys but incidentally an echogenic liver. Renal biopsy was consistent with FSGS: 1/24 glomeruli had global sclerosis, EM had diffuse podocyte foot process effacement, and IF was unrevealing. Genetic panel testing was then completed and revealed a pathogenic mutation in WT1 (IVS9+4C>T) and a separate pathogenic mutation in HNF1A which portends a risk to Mature Onset Diabetes of the Young (MODY) and in some cases hepatic steatosis. Normal uterus and ovaries as well as XX genotype were confirmed on this patient. She was initiated on ACEI therapy with no improvements in proteinuria over two years (recent UPC of 4.7 mg/mg), but renal function has remained stable. She is followed by Hepatology for hepatic steatosis. Parental genetic testing is pending, but father has a history of type 2 diabetes at age 18 years.


This case highlights the value of genetic testing in pediatric patients who present with isolated nephrotic range proteinuria without nephrotic syndrome, and whether a renal biopsy can be avoided if genetic results are available. Our patient is unique in that she is an XX female with normal ovarian development thus we question the need for gonadal monitoring as the risk for gonadoblastoma is seen in those XY females with streak ovaries. With regards to proteinuria and progression to ESRD, therapy is mainly limited in pediatrics to ACEI and ARB. In this patient with an HNF1A associated risk of metabolic syndrome, we consider the role of an SGLT-2 inhibitor for its nephroprotective and antiproteinuric effects.