Description of Two New<i>ABCB11</i>Mutations Responsible for Type 2 Benign Recurrent Intrahepatic Cholestasis in a French-Canadian Family

Beauséjour, Yannick; Álvarez, Fernando; Beaulieu, Marie-Claude; Bilodeau, Marc

doi:10.1155/2011/534918

Cited by 9 publications

(7 citation statements)

References 30 publications

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“…The common extrahepatic features in ATP8B1 caused BRIC1, such as watery diarrhea, pancreatitis, and hearing impairment, which were absent in our patient. Thus, together with clinical presentations and genetic discoveries, we finally diagnosed the patient with BRIC2 (18).…”

Section: Discussionmentioning

confidence: 99%

The Identification of Two New ABCB11 Gene Mutations and the Treatment Outcome in a Young Adult with Benign Recurrent Intrahepatic Cholestasis: A Case Report

Gao

Lin

et al. 2017

Hepat Mon

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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.

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Section: Discussionmentioning

confidence: 99%

The Identification of Two New ABCB11 Gene Mutations and the Treatment Outcome in a Young Adult with Benign Recurrent Intrahepatic Cholestasis: A Case Report

Gao

Lin

et al. 2017

Hepat Mon

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“…BRIC is a self‐limiting disease with a favorable outcome, causing rarely acute or chronic liver dysfunction even with repeated episodes. Both familial and sporadic BRIC cases have been reported in Western countries . In this study, we described a unique case of BRIC in China.…”

Section: Introductionmentioning

confidence: 87%

Compound heterozygous mutations of ABCB11 responsible for benign recurrent intrahepatic cholestasis

Tai

Xie

Tang

2015

J of Digest Diseases

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“…Missense mutations, synonymous mutations, and deletions of the bile salt exporting pump gene are associated with the development of cholestatic liver diseases, such as benign recurrent intrahepatic cholestasis type 2, progressive familial intrahepatic cholestasis type 2, intrahepatic cholestasis of pregnant women, cholelithiasis, and intrahepatic calculi [ 139 , 140 , 141 , 142 , 143 , 144 ].…”

Section: Mutations Of Genes Controlling the Cellular Metabolism And T...mentioning

confidence: 99%

A Recent Ten-Year Perspective: Bile Acid Metabolism and Signaling

et al. 2022

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Bile acids are important physiological agents required for the absorption, distribution, metabolism, and excretion of nutrients. In addition, bile acids act as sensors of intestinal contents, which are determined by the change in the spectrum of bile acids during microbial transformation, as well as by gradual intestinal absorption. Entering the liver through the portal vein, bile acids regulate the activity of nuclear receptors, modify metabolic processes and the rate of formation of new bile acids from cholesterol, and also, in all likelihood, can significantly affect the detoxification of xenobiotics. Bile acids not absorbed by the liver can interact with a variety of cellular recipes in extrahepatic tissues. This provides review information on the synthesis of bile acids in various parts of the digestive tract, its regulation, and the physiological role of bile acids. Moreover, the present study describes the involvement of bile acids in micelle formation, the mechanism of intestinal absorption, and the influence of the intestinal microbiota on this process.

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Description of Two NewABCB11Mutations Responsible for Type 2 Benign Recurrent Intrahepatic Cholestasis in a French-Canadian Family

Cited by 9 publications

References 30 publications

The Identification of Two New ABCB11 Gene Mutations and the Treatment Outcome in a Young Adult with Benign Recurrent Intrahepatic Cholestasis: A Case Report

The Identification of Two New ABCB11 Gene Mutations and the Treatment Outcome in a Young Adult with Benign Recurrent Intrahepatic Cholestasis: A Case Report

Compound heterozygous mutations of ABCB11 responsible for benign recurrent intrahepatic cholestasis

A Recent Ten-Year Perspective: Bile Acid Metabolism and Signaling

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