Journal
FRONTIERS IN MEDICINE
Volume 8, Issue -, Pages -Publisher
FRONTIERS MEDIA SA
DOI: 10.3389/fmed.2021.705489
Keywords
intrahepatic cholestasis; BRIC; diagnosis; treatment; case report
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Funding
- Science and Technological Supports Project of Sichuan Province, China [21ZDYF1954]
- China Postdoctoral Science Foundation [2020M670059ZX]
- National Natural Science Foundation of China [81900512]
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BRIC is a rare hereditary cholestatic liver disorder that requires accurate diagnosis and timely interventions. Genetic studies play a crucial role in diagnosing this disease. This case report highlights the importance of a different perspective in methodology when dealing with jaundice cases and diagnosing rare diseases.
Benign recurrent intrahepatic cholestasis (BRIC) is a rare hereditary cholestatic liver disorder. Accurate diagnosis and timely interventions are important in determining outcomes. Besides clinical and pathologic diagnosis, genetic study of BRIC remains limited. Here, we report a young man enduring recurrent jaundice and severe pruritus for 15 years. The increased level of direct bilirubin was the main biochemical abnormality, and the work-up for common causes of jaundice were unremarkable. Liver biopsy showed extensive cholestasis of hepatocytes in zone 3. The novel homozygous variant including c.1817T > C and p.I606T was detected on his ATP8B1gene. The patient was finally diagnosed with BRIC-1. His symptoms were relieved, and liver function tests returned to normal after taking ursodeoxycholic acid. This case provides a different perspective to the methodology employed when dealing with cases of jaundice and helping diagnose rare diseases.
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