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

Area of Science:

• Hepatology
• Genetics
• Molecular Biology

Background:

• Benign recurrent intrahepatic cholestasis (BRIC) is a rare genetic disorder characterized by recurrent cholestatic jaundice without progressive liver damage.
• Mutations in the ABCB11 gene, encoding the bile salt export pump (BSEP), are a known cause of BRIC.
• Identifying novel mutations is crucial for understanding disease mechanisms and developing targeted therapies.

Observation:

• A 16-year-old male presented with severe jaundice and laboratory findings consistent with intrahepatic cholestasis, despite normal gamma-glutamyl transpeptidase levels.
• Extensive investigations excluded viral, metabolic, and autoimmune liver diseases. Imaging confirmed normal bile ducts, while liver biopsy revealed cholestasis and sinusoidal dilatation.
• Genetic analysis identified a homozygous c.3083_3084delCAinsTG (Ala1028Val) mutation in the ABCB11 gene.

Findings:

• The identified homozygous c.3083_3084delCAinsTG mutation in the ABCB11 gene is reported for the first time in a patient with BRIC type 2.
• The patient showed a significant reduction in total bilirubin levels to normal ranges after two months of treatment with ursodeoxycholic acid and cholestyramine.

Implications:

• This case expands the spectrum of known ABCB11 mutations associated with BRIC type 2.
• The findings highlight the importance of genetic testing in diagnosing rare liver disorders.
• Successful therapeutic response suggests potential treatment strategies for patients with this specific mutation.