A novel ABCB11 mutation in an Iranian girl with progressive familial intrahepatic cholestasis
A nine-year-old girl with cirrhosis was referred for genetic counseling. The patient was affected by icterus and pruritus from newborn period. Her brother and sister displayed the same symptoms; they died at the age of 1.5 and 7 years, respectively. Her parents had a non-consanguinity marriage. The patient's serum biochemical analysis indicated high in total and direct bilirubin and S.G.P.T (ALT). The copper level was raised in serum biochemical result. In CT scan examination, liver and gallbladder had normal sizes but spleen was significantly enlarged. Microscopic examination from a liver biopsy specimen showed significant pathological characterizations of cholestasis. Hepatocytes indicated extensive pseudo acinar transformation; ballooning degeneration, cholestasis and bile plague. Portal tracts contain moderate lymphocytic infiltration and also necrosis in focal confluent. Fibrosis expansion of portal tracts with marked bridging and focal bile duct damage were observed. From the pathological examination of the hepatocytes and clinical demonstrations, the changes were compatible with progressive familial intra-hepatic cholestasis type 1 or 2. The liver biopsy result from the expired sister had the same pathological characteristics of the proband and ended with cirrhosis.\nThe diagnosis of the kind of PFIC can be difficult because PFIC type 1 has initial clinical and laboratory findings similar to those of PFIC type 2.[] Pathological features may differ. In PFIC type 1 bland canalicular cholestasis with variable fibrosis is found. In PFIC type 2, variable features include canalicular cholestasis and a neonatal hepatitis pattern, with hepatocellular swelling and giant cell transformation.[] Immune staining is a useful diagnostic tool for PFIC type 2 since most patients with ABCB11 mutations and hepatobiliary disease of onset in infancy have no canalicular BSEP expression.[] So pathological study was performed on proband. Hepatocellular swelling with multinucleated canalicular and hepatocellular cholestasis, portal lymphocytic infiltration and fibrosis, newly formed liver nodules, bridging necrosis, bile duct proliferation, giant cells and micro vesicular fat droplet can be seen in proband liver biopsy [].