Case Report: A Novel Homozygous Variant Identified in a Chinese Patient With Benign Recurrent Intrahepatic Cholestasis-Type 1

被引:5
|
作者
Chen, Huayu [1 ]
Wu, Dongbo [1 ]
Jiang, Wei [1 ]
Lei, Ting [1 ]
Lu, Changli [2 ]
Zhou, Taoyou [1 ]
机构
[1] Sichuan Univ, West China Hosp, Ctr Infect Dis, Chengdu, Peoples R China
[2] Sichuan Univ, West China Hosp, Dept Pathol, Chengdu, Peoples R China
基金
中国国家自然科学基金; 中国博士后科学基金;
关键词
intrahepatic cholestasis; BRIC; diagnosis; treatment; case report; ACID;
D O I
10.3389/fmed.2021.705489
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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.
引用
收藏
页数:6
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