The Identification of Two New ABCB11 Gene Mutations and the Treatment Outcome in a Young Adult with Benign Recurrent Intrahepatic Cholestasis: A Case Report Article Swipe
Haibing Gao
,
Shenglong Lin
,
Xujiang Lv
,
Huaxi Ma
,
Xiangmei Wang
,
Jiankai Fang
,
Wenjun Wu
,
Jia-Huang Lin
,
Xiumin Chen
,
Minghua Lin
·
YOU?
·
· 2017
· Open Access
·
· DOI: https://doi.org/10.5812/hepatmon.55087
YOU?
·
· 2017
· Open Access
·
· DOI: https://doi.org/10.5812/hepatmon.55087
Introduction: Benign recurrent intrahepatic cholestasis (BRIC) is a rare autosomal recessive disease characterized by recurrent episodes of severe pruritus and jaundice. Although the disease symptom will relieve spontaneously without leaving any hepatic injury, the ceaseless attacks would reduce the life quality of patients. However, there is not a validated treatment for BRIC yet. Considering the limited cases and the unpredictability of this disease, the publications of well-described case reports are necessary for the investigation of disease development and treatment efficacy. Case Presentation: A 26-year-old Chinese male, with clinical approved and genetic diagnosis of BRIC, experienced 3 attacks of recurrent intrahepatic cholestasis from 2010 to 2016. During hospitalizations, he received symptomatic treatments and plasmapheresis therapies. Both plasma exchange (PE) and plasma bilirubin adsorption (PBA) were conducted for him. The whole-exome sequencing revealed several single nucleotide polymorphisms (SNPs) as well as 2 novel mutations in ABCB11 (c.70A > T, p.Lys24*, exon2 and c.1417G > A, p.Asp473Asn, exon13). These SNPs and mutations might be associated with the BRIC development. Conclusions: Both medications and plasmapheresis interventions could relieve the patient's symptoms, however, neither could shorten the natural process of the disease. The 2 mutations (c.70A > T and c.1417G > A) in ABCB11 were first reported in a BRIC patient.
Related Topics
Concepts
Medicine
Progressive familial intrahepatic cholestasis
Plasmapheresis
Cholestasis
Pediatrics
BRIC
Internal medicine
Disease
Gastroenterology
Immunology
Transplantation
Emerging markets
Liver transplantation
Antibody
Economics
Macroeconomics
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.5812/hepatmon.55087
- OA Status
- hybrid
- Cited By
- 3
- References
- 24
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W2763700082
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W2763700082Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.5812/hepatmon.55087Digital Object Identifier
- Title
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The Identification of Two New ABCB11 Gene Mutations and the Treatment Outcome in a Young Adult with Benign Recurrent Intrahepatic Cholestasis: A Case ReportWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2017Year of publication
- Publication date
-
2017-10-15Full publication date if available
- Authors
-
Haibing Gao, Shenglong Lin, Xujiang Lv, Huaxi Ma, Xiangmei Wang, Jiankai Fang, Wenjun Wu, Jia-Huang Lin, Xiumin Chen, Minghua LinList of authors in order
- Landing page
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https://doi.org/10.5812/hepatmon.55087Publisher landing page
- Open access
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YesWhether a free full text is available
- OA status
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hybridOpen access status per OpenAlex
- OA URL
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https://doi.org/10.5812/hepatmon.55087Direct OA link when available
- Concepts
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Medicine, Progressive familial intrahepatic cholestasis, Plasmapheresis, Cholestasis, Pediatrics, BRIC, Internal medicine, Disease, Gastroenterology, Immunology, Transplantation, Emerging markets, Liver transplantation, Antibody, Economics, MacroeconomicsTop concepts (fields/topics) attached by OpenAlex
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3Total citation count in OpenAlex
- Citations by year (recent)
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2025: 1, 2024: 1, 2022: 1Per-year citation counts (last 5 years)
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24Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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| corresponding_author_ids | https://openalex.org/A5102496401 |
| countries_distinct_count | 1 |
| institutions_distinct_count | 10 |
| corresponding_institution_ids | https://openalex.org/I129708740, https://openalex.org/I4210115910, https://openalex.org/I4210124931 |
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| sustainable_development_goals[0].display_name | Responsible consumption and production |
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| citation_normalized_percentile.is_in_top_10_percent | False |