Characteristics Of Congenital Hepatic Fibrosis and Caroli's Disease: Experience of a Tertiary Care Center in the Ciliopathy of Childhood

Abstract

Background and Aim: Congenital hepatic fibrosis (CHF) is considered as variant of autosomal recessive polycystic kidney disease (ARPKD) affecting children and adolescents. Inheritance pattern is autosomal recessive and affected gene is PKHD1 located on chromosome 6p21, which encodes protein fibrocystin present on cilia of renal tubules and intrahepatic bile ducts. CHF may be associated with Caroli disease. We aimed at characterizing the histopathological features of these rare diseases and tried to correlate with radiological features, wherever available. Methods: Retrospective study was done. Eight cases were retrieved from the archives of pathology department, AIIMS. Detailed analysis of the histopathological features was done. We tried to correlate the histopathological features with clinical and radiological features. Results: We included total 8 cases (3 males and 5 females). Age range varied from 3months to 13 years. Two out of 8 cases had concomitant Caroli disease. CHF is usually associated with juvenile type of ARPKD. On histopathology, portal tracts were expanded by fibrosis and marked bile duct proliferation was noted around portal tract. In 4/8 cases there were presence of mild to moderate mixed inflammatory infiltrate comprising of lymphocytes, histiocytes, plasma cells and neutrophils. Individual hepatocytes were unremarkable in all the cases. Conclusion: Caroli disease and CHF are rare diseases associated with ductal plate malformation. Liver enzyme levels are usually normal. These are generally suspected on USG and MR cholangiography. Portosystemic shunt surgery gives good result in patient having patent portal vein and well preserved liver function. So, early diagnosis is of utmost importance in CHF and Caroli disease for planning further management.