Kidney Week

Abstract: FR-PO697

Single-Center Case Series of Congenital Anomalies of the Kidney and Urinary Tract and Hepatoblastoma

Session Information

• Pediatric Nephrology - 1
  October 25, 2024 | Location: Exhibit Hall, Convention Center
  Abstract Time: 10:00 AM - 12:00 PM

Category: Pediatric Nephrology

• 1900 Pediatric Nephrology

Authors

• Farr, Rebecca, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States

Rebecca Farr, MD

• Bonn, Julie, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States

Julie Bonn, MD

• Khorki, Mohamad Eyad, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States

Mohamad Eyad Khorki, MBBS

• Goldstein, Stuart, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States

Stuart Goldstein, MD, FASN

• Bondoc, Alexander, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States

Alexander Bondoc, MD

• Tiao, Greg, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States

Greg Tiao, MD

• Somers, Katherine, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States

Katherine Somers, MD

• Geller, James I., Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States

James I. Geller, MD

• Schuh, Meredith Posner, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States

Meredith Posner Schuh, MD

Introduction

Hepatoblastoma (HB) is the most common pediatric primary liver malignancy. Several congenital anomalies and syndromes are associated with an increased incidence of HB and have recommended HB screening guidelines. While multiple case reports describe HB in children with congenital anomalies of the kidney and urinary tract (CAKUT), true incidence is unknown and screening guidelines do not exist. We report a case series of eight patients with bilateral CAKUT and HB.

Case Description

All patients were male, preterm (gestational age 24-34 weeks), and diagnosed with HB between 5 months and 2 years from 2008-2022. Seven patients initiated dialysis (median start 54 days of life). Five were found to have HB incidentally on imaging obtained for surgical planning, two had imaging due to abdominal pain/distension and vomiting, and one had imaging as part of an evaluation for hypercalcemia. Four patients achieved successful remission with a combination of chemotherapy and surgical resection, while four patients were offered liver transplant due to the extent of their disease after chemotherapy. In this small cohort, neither the age at diagnosis, length of time on dialysis prior to diagnosis, nor alpha fetal protein (AFP) concentration at diagnosis (26-545,797ng/mL) was associated with the extent of disease or outcome (Table 1).

Discussion

This case series highlights bilateral CAKUT and HB at our center and represents 3.5% of bilateral CAKUT seen within the study period. Importantly, most were diagnosed with HB incidentally, and half needed liver transplantation due to the extent of their disease. We suggest a proactive screening protocol in patients with bilateral CAKUT has potential to identify HB at an earlier stage, thus possibly negating the need for liver transplantation. Further multicenter studies are needed to define the true incidence of HB in bilateral CAKUT and identify specific patient factors, such as genetic predisposition, to inform screening protocols.