The Intimate Relationship between Congenital Hepatic Fibrosis and Autosomal Recessive Polycystic Kidney Disease: A Case Report

Abstract

Case: This case describes a 38-year-old Korean female with history of hepatitis B (prior positive for Hep B core antibody, treated with Epivir in the post renal transplant setting, now with negative Hep B core antibody and undetectable viral load), thrombocytopenia, diabetes mellitus type II, chronic kidney disease secondary to polycystic kidney disease, status post cadaveric CMV positive renal transplant, with multiple episodes of urosepsis and pyelonephritis. Patient presented with fevers and chills for 1 day with associated nausea and vomiting for 2 days. On admission, the patient denied dysuria or hematuria. Abdominal ultrasound revealed moderately coarse nodular liver parenchyma and multiple cysts in the right liver, the largest one measuring 1.9 × 1.17 cm, and splenomegaly. Patient's family history was positive for polycystic kidney disease in her father. Given the patient's presenting symptoms, radiologic findings, and history of polycystic kidney disease, the patient underwent liver biopsy. Findings were broad fibrous septa with ductal abnormalities suggestive of ductal plate malformation all confirming the diagnosis of Congenital Hepatic Fibrosis. Discussion: Congenital hepatic fibrosis (CHF) is a fibrocystic liver disease that has a close relationship with autosomal recessive polycystic kidney disease (ARPKD). The incidence of ARPKD is around 1:20000, with the incidence of congenital hepatic fibrosis reported to be 43% to 83%. This close relationship has been linked to a mutation in the PKHD1 gene, which encodes a protein found on the primary cilia of renal and bile duct epithelial cells and has been recognized to maintain the tubular architecture of cells in the kidney and liver. ARPKD normally occurs early in patient's life, and will lead to dialysis and/or transplant early in life. Patients who survive past infancy generally seem to have a milder renal phenotype and will maintain good renal function into adulthood, but are at higher risk of liver disease, especially in setting of renal transplantation, which allows patients to live longer. The initial diagnosis is made by identification of an anatomic lesion via ultrasound, CT, MRI and/or MRCP, which then is confirmed by liver biopsy. Recognizing the intimate relationship between ARPKD and CHF and early signs of ensuing portal hypertension are of clinical relevance in early diagnosis and intervention. The goal is to decrease the incidence of bleeding and infection and ultimately to reduce morbidity and mortality in this unique population.Table: Clinical features and complications of congenital hepatic fibrosis