Case Report: A Rare Case of Benign Recurrent Intrahepatic Cholestasis-Type 1 With a Novel Heterozygous Pathogenic Variant of ATP8B1

Benign recurrent intrahepatic cholestasis type 1 (BRIC1) is a rare autosomal recessive disorder that is characterized by intermittent episodes of jaundice and intense pruritus and caused by pathogenic variants of ( ). The presence of genetic heterogeneity in the variants of is suggested. Herein, we...

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Published in:Frontiers in medicine 2022-04, Vol.9, p.891659
Main Authors: Suzuki, Hiroyuki, Arinaga-Hino, Teruko, Sano, Tomoya, Mihara, Yutaro, Kusano, Hironori, Mizuochi, Tatsuki, Togawa, Takao, Ito, Shogo, Ide, Tatsuya, Kuwahara, Reiichiro, Amano, Keisuke, Kawaguchi, Toshihiro, Yano, Hirohisa, Kage, Masayoshi, Koga, Hironori, Torimura, Takuji
Format: Article
Language:English
Subjects:
ATP8B1
autosomal recessive
benign recurrent intrahepatic cholestasis (BRIC)
cholestasis
Medicine
progressive familial intrahepatic cholestasis (PFIC)
rifampicin
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Summary:Benign recurrent intrahepatic cholestasis type 1 (BRIC1) is a rare autosomal recessive disorder that is characterized by intermittent episodes of jaundice and intense pruritus and caused by pathogenic variants of ( ). The presence of genetic heterogeneity in the variants of is suggested. Herein, we describe a unique clinical course in a patient with BRIC1 and a novel heterozygous pathogenic variant of . A 20-year-old Japanese man experienced his first cholestasis attack secondary to elevated transaminase at 17 years of age. Laboratory examinations showed no evidence of liver injury caused by viral, autoimmune, or inborn or acquired metabolic etiologies. Since the patient also had elevated transaminase and hypoalbuminemia, he was treated with ursodeoxycholic acid and prednisolone. However, these treatments did not relieve his symptoms. Histopathological assessment revealed marked cholestasis in the hepatocytes, Kupffer cells, and bile canaliculi, as well as a well-preserved intralobular bile duct arrangement and strongly expressed bile salt export pump at the canalicular membrane. Targeted next-generation sequencing detected a novel heterozygous pathogenic variant of (c.1429 + 2T > G). Taken together, the patient was highly suspected of having BRIC1. Ultimately, treatment with 450 mg/day of rifampicin rapidly relieved his symptoms and shortened the symptomatic period.
ISSN:2296-858X
2296-858X
DOI:10.3389/fmed.2022.891659