Benign Recurrent Intrahepatic Cholestasis Type 2 in Siblings with Novel <i>ABCB11</i> Mutations

Sohn, Min Ji; Woo, Min Hyung; Seong, Moon Woo; Park, Sung Sup; Kang, Gyeong Hoon; Moon, Jin Soo; Ko, Jae Sung

doi:10.5223/pghn.2019.22.2.201

Cited by 12 publications

(15 citation statements)

References 18 publications

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“…The Bile Salt Export Pump (BSEP), a member of the adenosino-triphosphate (ATP)-Binding Cassette (ABC) transporter family, utilizes ATP to transport substrates, such as taurocholate and other BS [15][16][17]. Genetic variability is present, evidenced by various mutations in in aforementioned genes [15][16][17][18][19][20][21]. New mutations in ATP8B1, ABCB11, and SLC51A genes have recently been reported [13,[15][16][17][18][19][20].…”

Section: Genetic Aspects Of Bric and Progressive Familial Intrahepati...mentioning

confidence: 99%

Benign Recurrent Intrahepatic Cholestasis: Where are we now?

Geladari,

Vallianou,

Margellou

et al. 2023

Preprint

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Benign recurrent intrahepatic cholestasis (BRIC) is a rare genetic cause of cholestasis. It is considered as part of inherited intrahepatic cholestasis syndromes, such as progressive familial intrahepatic cholestasis (PFIC), and intrahepatic cholestasis of pregnancy. BRIC is presented in infancy or in early adulthood. It is characterized by exacerbations and remissions of jaundice with accompanying intense itching, lasting from weeks to years throughout lifetime. Normal gamma-glutamyl transferase (GGT) is a characteristic laboratory finding. Contrary to PFIC, which may progress to cirrhosis, BRIC does not progress to chronic liver disease or cirrhosis. However, incessant episodes of cholestasis result in marked reduction in quality of life and distinct mutations increase the risk of hepatobiliary malignancy. In intervals between the exacerbations, the histological findings of centrilobular cholestasis together with the abnormal laboratory parameters return to normal. In this context, liver biopsy might be avoided. In this review, we will focus on the genetic aspects of BRIC, its pathophysiology, clinical presentation, and prognosis of this autosomal recessive genetically determined cholestatic disorder. Moreover, triggering factors as well as treatment options will be further elucidated.

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Section: Genetic Aspects Of Bric and Progressive Familial Intrahepati...mentioning

confidence: 99%

Benign Recurrent Intrahepatic Cholestasis: Where are we now?

Geladari,

Vallianou,

Margellou

et al. 2023

Preprint

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“…Several case studies have shown that rifampicin therapy may lead to reduced symptoms, improved biochemical parameters, and shortened episodes in benign recurrent intrahepatic cholestasis (BRIC) patients. [7][8][9][10] Rifampicin was also reported to be effective in patients with mutations in the adenosine 50-triphosphate binding cassette subfamily B member 11 (ABCB11) gene and MRP2 gene. 11,12 Van Dijk found that rifampicin can normalize serum bilirubin levels in patients with PHSF induced by drugs (e.g., flucloxacillin, clavulanic acid, anabolic steroid, oestradiol, and total parenteral nutrition) or transient biliary obstruction in formerly healthy individuals.…”

Section: Introductionmentioning

confidence: 99%

Efficacy and safety of rifampicin in patients with persistent hepatocellular secretory failure

Shi

Sheng

Lian

et al. 2021

J of Gastro and Hepatol

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Background and Aim: Persistent hepatocellular secretory failure (PHSF) is a rare condition of severe cholestasis caused by drugs, toxins, infection, or temporary biliary obstruction. Real-world data on rifampicin in cholestasis, particularly among patients with deep jaundice, are scarce. We aimed to expand the knowledge on the efficacy and safety of rifampicin treatment in PHSF patients. Methods: Sixteen patients with PHSF who had received rifampicin treatment (150-300 mg/d) at our institution from September 2016 to July 2020 were included. Treatment efficacy was assessed by 20% improvement in serum total bilirubin (TBIL) concentration at 4 weeks. Follow-up was continued until the concentration of TBIL returned to normal. Results: Among the 16 enrolled patients, 12 had predisposing factors (drugs, infection, or transient biliary obstruction). ATP8B1 or ABCB11 mutations were detected in the other four patients without trigger events. UGT1A1 mutations were found in 7/10 patients. Before rifampicin treatment, the median TBIL level was 352 μmol/L (range 171-591 μmol/L). TBIL > 20% improvement was observed in 14 patients at 4 weeks. TBIL levels of 14 patients eventually returned to normal after 6-12 weeks of rifampicin treatment. The remaining two patients who did not respond to rifampicin finally recovered after nasobiliary drainage. Except for one patient with transient drug-induced hepatitis, no other serious adverse events were observed. Conclusions: Rifampicin could be a promising option for most PHSF patients. Most PHSF patients have UGT1A1 deficiency, which may be the target of rifampicin.design of the study and critical revision of the manuscript. MS was involved in data acquisition, data interpretation, the drafting of the manuscript, and statistical analysis.

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“…PFIC consists of an intrahepatic accumulation of free bile acids that produce severe and chronic liver damage since early ages and make liver transplantation necessary in most cases [18,19]. Several mutated genes have been associated to PFIC, including transporters atp8b1 [20][21][22], abcb11 [23,24], abcb4/mdr3 [25][26][27][28] or tjp2 [18].…”

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confidence: 99%

Targeted Proteomics for Monitoring One-Carbon Metabolism in Liver Diseases

2022

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Liver diseases cause approximately 2 million deaths per year worldwide and had an increasing incidence during the last decade. Risk factors for liver diseases include alcohol consumption, obesity, diabetes, the intake of hepatotoxic substances like aflatoxin, viral infection, and genetic determinants. Liver cancer is the sixth most prevalent cancer and the third in mortality (second in males). The low survival rate (less than 20% in 5 years) is partially explained by the late diagnosis, which remarks the need for new early molecular biomarkers. One-carbon metabolism integrates folate and methionine cycles and participates in essential cell processes such as redox homeostasis maintenance and the regulation of methylation reactions through the production of intermediate metabolites such as cysteine and S-Adenosylmethionine. One-carbon metabolism has a tissue specific configuration, and in the liver, the participating enzymes are abundantly expressed—a requirement to maintain hepatocyte differentiation. Targeted proteomics studies have revealed significant differences in hepatocellular carcinoma and cirrhosis, suggesting that monitoring one-carbon metabolism enzymes can be useful for stratification of liver disease patients and to develop precision medicine strategies for their clinical management. Here, reprogramming of one-carbon metabolism in liver diseases is described and the role of mass spectrometry to follow-up these alterations is discussed.

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Benign Recurrent Intrahepatic Cholestasis Type 2 in Siblings with Novel ABCB11 Mutations

Cited by 12 publications

References 18 publications

Benign Recurrent Intrahepatic Cholestasis: Where are we now?

Benign Recurrent Intrahepatic Cholestasis: Where are we now?

Efficacy and safety of rifampicin in patients with persistent hepatocellular secretory failure

Targeted Proteomics for Monitoring One-Carbon Metabolism in Liver Diseases

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