Turkish Archives of Pediatrics
Case Report

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

1.

Department of Pediatric Gastroenterology Hepatology and Nutrition, University of Health Sciences, Antalya Training and Research Hospital, Antalya, Turkey

2.

Department of Medical Genetics, University of Health Sciences, Antalya Training and Research Hospital, Antalya, Turkey

Turk Arch Pediatr 2021; 56: 72-74
DOI: 10.14744/TurkPediatriArs.2020.74507
Read: 37 Downloads: 18 Published: 30 December 2020

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.

Cite this article as: Akbulut UE, Randa NC, Işık İA, Atalay A. Benign recurrent intrahepatic cholestasis type 2 in a child: A case report and novel mutation. Turk Arch Pediatr 2021; 56(1): 72-4.

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