Cargando…
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 adenosine triphosphatase phospholipid transporting 8B1 (ATP8B1). The presence of geneti...
Autores principales: | , , , , , , , , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9099094/ https://www.ncbi.nlm.nih.gov/pubmed/35572954 http://dx.doi.org/10.3389/fmed.2022.891659 |
_version_ | 1784706526606262272 |
---|---|
author | 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 |
author_facet | 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 |
author_sort | Suzuki, Hiroyuki |
collection | PubMed |
description | 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 adenosine triphosphatase phospholipid transporting 8B1 (ATP8B1). The presence of genetic heterogeneity in the variants of ATP8B1 is suggested. Herein, we describe a unique clinical course in a patient with BRIC1 and a novel heterozygous pathogenic variant of ATP8B1. 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 ATP8B1 (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. |
format | Online Article Text |
id | pubmed-9099094 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-90990942022-05-14 Case Report: A Rare Case of Benign Recurrent Intrahepatic Cholestasis-Type 1 With a Novel Heterozygous Pathogenic Variant of ATP8B1 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 Front Med (Lausanne) Medicine 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 adenosine triphosphatase phospholipid transporting 8B1 (ATP8B1). The presence of genetic heterogeneity in the variants of ATP8B1 is suggested. Herein, we describe a unique clinical course in a patient with BRIC1 and a novel heterozygous pathogenic variant of ATP8B1. 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 ATP8B1 (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. Frontiers Media S.A. 2022-04-29 /pmc/articles/PMC9099094/ /pubmed/35572954 http://dx.doi.org/10.3389/fmed.2022.891659 Text en Copyright © 2022 Suzuki, Arinaga-Hino, Sano, Mihara, Kusano, Mizuochi, Togawa, Ito, Ide, Kuwahara, Amano, Kawaguchi, Yano, Kage, Koga and Torimura. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Medicine 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 Case Report: A Rare Case of Benign Recurrent Intrahepatic Cholestasis-Type 1 With a Novel Heterozygous Pathogenic Variant of ATP8B1 |
title | Case Report: A Rare Case of Benign Recurrent Intrahepatic Cholestasis-Type 1 With a Novel Heterozygous Pathogenic Variant of ATP8B1 |
title_full | Case Report: A Rare Case of Benign Recurrent Intrahepatic Cholestasis-Type 1 With a Novel Heterozygous Pathogenic Variant of ATP8B1 |
title_fullStr | Case Report: A Rare Case of Benign Recurrent Intrahepatic Cholestasis-Type 1 With a Novel Heterozygous Pathogenic Variant of ATP8B1 |
title_full_unstemmed | Case Report: A Rare Case of Benign Recurrent Intrahepatic Cholestasis-Type 1 With a Novel Heterozygous Pathogenic Variant of ATP8B1 |
title_short | Case Report: A Rare Case of Benign Recurrent Intrahepatic Cholestasis-Type 1 With a Novel Heterozygous Pathogenic Variant of ATP8B1 |
title_sort | case report: a rare case of benign recurrent intrahepatic cholestasis-type 1 with a novel heterozygous pathogenic variant of atp8b1 |
topic | Medicine |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9099094/ https://www.ncbi.nlm.nih.gov/pubmed/35572954 http://dx.doi.org/10.3389/fmed.2022.891659 |
work_keys_str_mv | AT suzukihiroyuki casereportararecaseofbenignrecurrentintrahepaticcholestasistype1withanovelheterozygouspathogenicvariantofatp8b1 AT arinagahinoteruko casereportararecaseofbenignrecurrentintrahepaticcholestasistype1withanovelheterozygouspathogenicvariantofatp8b1 AT sanotomoya casereportararecaseofbenignrecurrentintrahepaticcholestasistype1withanovelheterozygouspathogenicvariantofatp8b1 AT miharayutaro casereportararecaseofbenignrecurrentintrahepaticcholestasistype1withanovelheterozygouspathogenicvariantofatp8b1 AT kusanohironori casereportararecaseofbenignrecurrentintrahepaticcholestasistype1withanovelheterozygouspathogenicvariantofatp8b1 AT mizuochitatsuki casereportararecaseofbenignrecurrentintrahepaticcholestasistype1withanovelheterozygouspathogenicvariantofatp8b1 AT togawatakao casereportararecaseofbenignrecurrentintrahepaticcholestasistype1withanovelheterozygouspathogenicvariantofatp8b1 AT itoshogo casereportararecaseofbenignrecurrentintrahepaticcholestasistype1withanovelheterozygouspathogenicvariantofatp8b1 AT idetatsuya casereportararecaseofbenignrecurrentintrahepaticcholestasistype1withanovelheterozygouspathogenicvariantofatp8b1 AT kuwaharareiichiro casereportararecaseofbenignrecurrentintrahepaticcholestasistype1withanovelheterozygouspathogenicvariantofatp8b1 AT amanokeisuke casereportararecaseofbenignrecurrentintrahepaticcholestasistype1withanovelheterozygouspathogenicvariantofatp8b1 AT kawaguchitoshihiro casereportararecaseofbenignrecurrentintrahepaticcholestasistype1withanovelheterozygouspathogenicvariantofatp8b1 AT yanohirohisa casereportararecaseofbenignrecurrentintrahepaticcholestasistype1withanovelheterozygouspathogenicvariantofatp8b1 AT kagemasayoshi casereportararecaseofbenignrecurrentintrahepaticcholestasistype1withanovelheterozygouspathogenicvariantofatp8b1 AT kogahironori casereportararecaseofbenignrecurrentintrahepaticcholestasistype1withanovelheterozygouspathogenicvariantofatp8b1 AT torimuratakuji casereportararecaseofbenignrecurrentintrahepaticcholestasistype1withanovelheterozygouspathogenicvariantofatp8b1 |