Nonsense variant of ATP8B1 gene in heterozygosis and benign recurrent intrahepatic cholestasis: A case report and review of literature

Figure 1 Histological pictures of liver biopsy and immunohistochemical analysis of ATP8B1 gene encoded protein in liver biopsy. A: Severe cholestasis in zone 3 (centrilobular area) with evidence of bile plugs (black arrow) as well as intra-hepatocyte bile pigment [hematoxylin and eosin (HE), 200 ×]; B: Activation and hyperplasia of Kupffer’s cells, which are stained red by periodic acid schiff (PAS) reaction (black arrow) and counterstained blue by haematoxylin (PAS, 100 ×); C: Portal area showing preserved biliary duct and few inflammatory cells (HE, 200 ×); D: Canalicular immunoreactivity (diaminobenzidine chromogen and hematoxylin counterstain) for ATP8B1 gene encoded protein showing mild (black arrow) or absent staining in our benign recurrent intrahepatic cholestasis patient (400 ×); E: Normal immunohistochemical ATP8B1 gene encoded protein (black arrow) staining in a healthy control (200 ×). Scale bars with length expressed as microns are reported.

Figure 2 Pedigree and electropherograms of ATP8B1 c. 1558A>T variant identified in the family of the BRIC patient.

Figure 3 Course of most significant laboratory tests and trend chart with the therapeutic process. A: Total and conjugated bilirubin values, expressed as mg/dL; B: Aspartate aminotransferase, alanine aminotransferase and gamma-glutamyltranspeptidase, expressed as U/L. n.v.: Normal values; GGT: Gamma-glutamyltranspeptidase; AST: Aspartate aminotransferase; ALT: Alanine aminotransferase.