Case Report: A Rare Heterozygous ATP8B1 Mutation in a BRIC1 Patient: Haploinsufficiency?

Frontiers in Medicine

article

Hao Bing¹  Yi-Ling Li¹  Dan Li¹  Chen Zhang¹  Bing Chang¹ 

[1] Department of Gastroenterology, First Affiliated Hospital of China Medical University;Department of Gastroenterology, Shengjing Hospital Affiliated by China Medical University

关键词: benign recurrent intrahepatic cholestasis;    ATP8B1;    haploinsufficiency;    cholestasis;    targeted therapy;   

DOI  :  10.3389/fmed.2022.897108

学科分类：社会科学、人文和艺术（综合）

来源: Frontiers

【 摘 要 】

Benign recurrent intrahepatic cholestasis (BRIC) is an autosomal recessive disorder characterized by recurrent cholestasis. ATPase class I, type 8B, member 1 ( ATP8B1 ) encodes familial intrahepatic cholestasis 1 (FIC1), which acts as a phosphatidylserine reversing enzyme in the tubule membrane of hepatocytes to mediate the inward translocation of phosphatidylserine (PS). At present, dozens of ATP8B1 pathogenic mutations have been identified that mainly cause BRIC1 and progressive familial intrahepatic cholestasis 1 (PFIC1). The diagnosis of BRIC1 is based on symptoms, laboratory tests, imaging, liver histology, and genetic testing. BRIC1 treatment seeks to prevent recurrence and reduce disease severity. At present, the main treatment methods include ursodeoxycholic acid (UDCA), rifampin, cholestyramine and haemofiltration, and endoscopic nasobiliary drainage (ENBD). Here, we report a 17-year-old patient with cholestasis who has a rare heterozygous ATP8B1 gene mutation (p.T888K). The patient was treated with UDCA, glucocorticoids and haemofiltration, after which bilirubin levels gradually returned to normal. This case was thought to be caused by an ATP8B1 heterozygous mutation, which may be related to haploinsufficiency (HI).

【 授权许可】

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