Progressive Familial Intrahepatic Cholestasis Due To Mutation Of USP53 Gene- A Case Report

Abstract

Back ground Progressive familial intrahepatic cholestasis (PFIC), first described in 1969,   is one of the most important causes of genetic cholestatic liver disease in neonates, infants and older children. Case A 30-day-old boy born to non-consanguineous parents presented with cholestatic jaundice. The common causes like   biliary atresia, choledochal cyst, hypothyroidism,  infections, etc were excluded by relevant investigations. Liver biopsy done at 4 years of age revealed canalicular cholestasis and  portal fibrosis. Subsequently, he was lost for treatment for several years as the parents had opted for indigenous treatments. He came back to us 2 years back at 25 years of age  with severe intractable pruritus causing even suicidal thoughts , jaundice and firm hepatomegaly. Clinical exome was suggestive of type 7 progressive familial intrahepatic cholestasis (PFIC7). Keywords Neonatal cholestasis, Progressive Familial Intrahepatic Cholestasis, low-GGT, intractable pruritus, USP53 gene