Kidney Week

Abstract: PUB120

Caroli Syndrome: A Variant in PKHD1 Causing ARPKD and Liver Disease

Session Information

• Publication Only

Category: Genetic Diseases of the Kidneys

• 1201 Genetic Diseases of the Kidneys: Cystic (Monogenic)

Authors

• Wieczorek, Peter, NYU Langone Health, New York, New York, United States

Peter Wieczorek, DO, MS

• Hasan, Sara, NYU Langone Health, New York, New York, United States

Sara Hasan, DO

• Umana, Chinweizu Deborah, NYU Langone Health, New York, New York, United States

Chinweizu Deborah Umana, MBBS

• Caplin, Nina J., NYU Langone Health, New York, New York, United States

Nina J. Caplin, MD

Introduction

Caroli Syndrome is a rare congenital disorder characterized by multifocal saccular dilatation of the intrahepatic bile ducts and microcystic renal disease. Recognition of this hepatorenal association is clinically important, as complications including recurrent biliary infection, hepatic fibrosis, chronic kidney disease, and eventual liver or kidney failure can significantly increase morbidity and mortality.

Case Description

23 year old male with history of primary sclerosing cholangitis presented for progressive abdominal pain and bilateral flank pain with concurrent fevers, night sweats, and weight loss.

Exam: + Hepatosplenomegaly, diffuse ab tenderness
Afebrile, Sp02 100% on RA, HR 78, RR 18, BP 99/58

Hgb 5.0. No overt bleeding, no hemolysis, blood smear normal, low iron studies. Cr 3.4 with bland UA. BMB unrevealing. CT Chest with diffuse LAD. CTAP with intrahepatic biliary ductal dilation consistent with PSC, splenomegaly, retroperitoneal LAD. EGD revealed chronic inactive gastritis, LN biopsy without malignancy. MRCP demonstrated dilated lobular intraheptic bile ducts and central dot sign.

Discussion

Mutations in PKHD1 gene located on chromosome 6p21-p12 which codes for fibrocystin, a large integral membrane protein, leads to dysfunction in the liver and kidneys where this protein is primarily expressed. With an autosomal recessive mode of inheritance, this form of ARPKD cause unique radiologic manifestations including medullary renal microcysts and central dot sign, an enhancing dot within dilated intrahepatic bile ducts. There is no disease specific therapy for ARPKD and management is supportive.

Medullary Microcyst

Central Dot Sign