The differential diagnoses of our case included progressive familial intrahepatic cholestasis (PFIC), childhood primary sclerosing cholangitis (PSC), congenital hepatic fibrosis, childhood autoimmune hepatitis, childhood primary biliary cirrhosis, alpha-1-antitrypsin deficiency, and cystic fibrosis. Here, SERPINA1 is linked to progressive familial intrahepatic cholestasis.