Congenital hepatic fibrosis

Abstract

Congenital hepatic fi brosis (CHF) is a rare developmental disorder of the portobiliary system and most commonly associated with polycystic kidney disease. The pattern of inheritance of this disorder is autosomal recessive. The exact prevalence of CHF is unknown (estimated from 1:10000 to 1:20000). Sequelae of CHF and portal hypertension have been found in less than half of the all CHF patients and were associated with age. We present a case study of a boy with CHF complicated by portal hypertension, splenomegaly and hypersplenism. Tis patient was diagnosed with cholestatic syndrome as a neonate. A transcutaneous liver biopsy was performed and repeated at the age of 9 months. Diagnosis of cholestatic syndrome was made based on the findings of a histopathological examination. The ultrasound examination showed polycystic kidneys; however, global renal function remained normal. At the age of 8 years and 6 months, portal hypertension was confirmed by Doppler ultrasonography, and endoscopic examination revealed oesophageal varices of second and third grade, which was also observed in the splenic portography. Trombocytopenia due to hypersplenism was identifi ed by a platelet count of 75.2 x 103. To prevent variceal bleeding, a a splenorenal shunt and a partial spleen resection were performed. The differential of cholestatic syndrome in infants should include CHF. This type of disease may suggest early developing complications of CHF, such as portal hypertension and hypersplenism. Portosystemic shunt surgical treatment is justified in CHF cases with cholestatic syndrome .