D0540 - Liver Involvement in Autosomal Recessive Polycystic Kidney Disease

Mary Alexandra Bramlage, MD¹, Jessica L. Sang, MD, MPH², Jason Lewis, MD^2
1Carolinas Medical Center Atrium Health, Charlotte, NC; ²Atrium Health, Charlotte, NC

Introduction: Autosomal recessive polycystic kidney disease (ARPKD) is an uncommon genetic disorder, which is seen in approximately 1 in 20,000 children.¹ Because this disease is so rare, the associated pathologies of ARPKD can often be overlooked. It is important to know that liver involvement is invariably present in all cases of ARPKD and the following case highlights this association.²

Case Description/Methods: A 36-year-old female with ARPKD status post renal transplant on mycophenolate and tacrolimus for immunosuppression presented to the hospital with melena and hematemesis. Her hemoglobin was 7.2 g/dL on admission; her baseline hemoglobin was 12.5 g/dL. EGD was performed and grade 2 esophageal varices were identified and banded. These findings prompted workup for portal hypertension (PH) etiology because the patient had no known history of liver disease. She had a repeat EGD one month later to evaluate for eradication of varices. Endoscopic ultrasound (EUS) was also performed at that time for liver biopsy and portal pressure gradient (PPG) measurements. The calculated EUS-guided portal pressure gradient was 18.3mmHg. The sonographic findings of the liver revealed a diffuse abnormal echotexture which was characterized by a heterogenous appearance. Liver biopsy revealed a benign hepatic parenchyma with multiple ductal plate malformations. This finding is consistent with congenital hepatic fibrosis which has a known association with ARPKD.

Discussion: This young patient’s presentation with esophageal varices was rather perplexing considering she had no known history of liver disease, alcohol dependence, or known risk factors for PH. The key to identifying the cause of her PH was her history of ARPKD. The novel method of EUS-guided PPG measurement was used to evaluate PH severity and provided helpful information without the need of an additional procedure. Liver biopsy confirmed the diagnostic suspicion. Approximately 10% of ARPKD patients ultimately require liver transplantation.³ The patient is being followed closely in the clinic.



1.Guay-Woodford LM, Desmond RA. ARPKD: the clinical experience in North America. Pediatrics. 2003;111(5 Pt 1):1072–1080.

2. Wicher D, Obrycki Ł, Jankowska I. ARPKD-The Clinical Aspects and Diagnostic Challenges. J Pediatr Genet. 2021;10(1):1-8. doi:10.1055/s-0040-1714701

3. Wen J. Congenital hepatic fibrosis in ARPKD. Clin Transl Sci. 2011;4(06):460–465.








Disclosures:


Mary Alexandra Bramlage, MD¹, Jessica L. Sang, MD, MPH², Jason Lewis, MD². D0540 - Liver Involvement in Autosomal Recessive Polycystic Kidney Disease, ACG 2022 Annual Scientific Meeting Abstracts. Charlotte, NC: American College of Gastroenterology.