Ni Wayan Setiari Dewi, Firman Parulian Sitanggang, Pande Putu Yuli Anandasari

Radiological finding of autosomal recessive polycystic kidney disease with hepatic involvement: a case report

Introduction

Radiological finding of autosomal recessive polycystic kidney disease with hepatic involvement: a case report. Case report on autosomal recessive polycystic kidney disease (ARPKD) with hepatic involvement. Discover crucial radiological findings, diagnosis, and multimodality imaging (US, CT, MRI).

Abstract

Introduction: Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder that primarily involves the kidneys and liver. Radiological imaging plays a pivotal role in establishing the diagnosis, assessing disease extent, and identifying associated complications such as congenital hepatic fibrosis and portal hypertension. Case description: We present a case of a 10-year-old female with a history of splenomegaly, recurrent upper gastrointestinal bleeding, and abdominal pain. Laboratory findings showed anemia and mild renal dysfunction. Ultrasonography revealed bilaterally enlarged echogenic kidneys with multiple small cysts and hepatosplenomegaly. Contrast-enhanced CT demonstrated multiple bilateral renal cysts, hepatic cysts, and intrahepatic bile duct dilatation consistent with Caroli disease (Todani type V), along with variceal collaterals and splenomegaly. MRI confirmed diffuse renal enlargement with loss of corticomedullary differentiation, multiple microcysts in both kidneys, and intrahepatic biliary dilatation, further supporting the diagnosis of ARPKD with congenital hepatic fibrosis. The imaging findings were essential in characterizing the disease spectrum and guiding clinical management. Conclusion: This case highlights the crucial role of radiology in diagnosing ARPKD and its hepatobiliary complications. Multimodality imaging, including ultrasonography, CT, and MRI, provides comprehensive evaluation for early recognition, follow-up, and therapeutic planning in patients with ARPKD.

Full Text

Comments

You need to be logged in to post a comment.