신세뇨관 확장증, Caroli 증후군 및 총 담관낭을 동반한 선천성 간 섬유증 1례

A Case of Congenital Hepatic Fibrosis Accompanied by Renal Tubular Ectasia, Caroli Syndrome and Choledochal Cyst

우연히 발견된 간비장 종대를 주소로 내원한 3세 여아에서 신낭종을 동반한 선천성 간섬유화증을 진단한 예를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

Congenital hepatic fibrosis is a relatively rare disease, characterized by bile ductular proliferation and prominent fibrosis in the portal area of liver resulting in portal hypertension. It is frequently associated with other abnormalities such as polycystic kidney, Caroli syndrome, cystic dysplasia of pancreas, intestinal lymphangiectasia, pulmonary emphysema, hemangioma, and cleft palate. We report here a case of congenital hepatic fibrosis associated with renal tubular ectasia in a 3-year-old girl, whose chief complaint was abdominal distension. Her liver function test did not reveal any abnormal findings. Hepatosplenomegaly and multiple dilated bile ducts were seen in the abdominal CT scaning. Esophageal varix was not detected by an endoscopic examination. Microscopically, diffuse portal fibrosis and widening with proliferation of blie ductules in the liver specimen and tubular ectasia in renal cortex were seen.