Benign recurrent intrahepatic cholestasis type 2 in a child: A case report and novel mutation.

ABSTRACT: Benign recurrent intrahepatic cholestasis is a rare disorder characterized by recurrent episodes of cholestatic jaundice without liver damage. A mutation in the ABCB11 gene encoding bile salt export pump protein causes the disease. A 16-year-old boy with severe jaundice is presented here. His laboratory tests were consistent with intrahepatic cholestasis despite having normal gamma-glutamyl transpeptidase levels. Acute and chronic liver diseases with viral, metabolic, and autoimmune etiology were excluded. Magnetic resonance imaging revealed normal intra- and extrahepatic bile ducts. A liver biopsy showed cholestasis in the centrilobular and intermediate zones and sinusoidal dilatation. Genetic testing revealed a homozygous c.3083_3084delCAinsTG (Ala1028Val) mutation in the ABCB11 gene. The patient was treated with ursodeoxycholic acid 20 mg/kg/day and cholestyramine 4 g twice daily, and total bilirubin decreased to normal ranges after two months of therapy. This mutation (c.3083_3084delCAinsTG) in the ABCB11 gene is the first reported in a patient with benign recurrent intrahepatic cholestasis type 2.

SUBMITTER: Akbulut UE 

PROVIDER: S-EPMC8114600 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature