World Journal of Hepatology最新文献

{"title":"Role of etiological therapy in achieving recompensation of decompensated liver cirrhosis.","authors":"Dmitry V Garbuzenko","doi":"10.4254/wjh.v17.i4.105127","DOIUrl":"https://doi.org/10.4254/wjh.v17.i4.105127","url":null,"abstract":"<p><p>The traditional view of the decompensated stage as a point of no return in the natural history of liver cirrhosis (LC) is currently being questioned. This is due to the appearance of data indicating the possibility of restoring the structure and function of the liver, reducing the portal pressure with a positive effect on complications associated with portal hypertension and decreasing the risk of developing hepatocellular carcinoma after elimination of the etiological factor. To create a unified understanding the recompensation of decompensated LC, at the Baveno VII consensus workshop were developed criteria confirming it. At the moment, the efficacy of etiological therapy in achieving established criteria for recompensation has been evaluated only in patients with alcohol-related, as well as hepatitis B virus-related and hepatitis C virus-related decompensated LC. The purpose of the review is to provide up-to-date information on the role of etiological therapy in achieving recompensation of decompensated LC according to Baveno VII criteria. So far, only the first steps have been taken in studying this problem. To further understand it, research is needed to identify pathophysiological mechanisms, modifying factors, predictors, and potential noninvasive biomarkers of recompensation of decompensated LC.</p>","PeriodicalId":23687,"journal":{"name":"World Journal of Hepatology","volume":"17 4","pages":"105127"},"PeriodicalIF":2.5,"publicationDate":"2025-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12038422/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144016310","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correlation between the interleukin-36 subfamily and gut microbiota in patients with liver cirrhosis: Implications for gut-liver axis imbalance.","authors":"Yi-Zhi Pan, Wan-Ting Chen, Hao-Ran Jin, Zhen Liu, Ying-Ying Gu, Xin-Ruo Wang, Jue Wang, Jing-Jing Lin, Yan Zhou, Lan-Man Xu","doi":"10.4254/wjh.v17.i4.105660","DOIUrl":"https://doi.org/10.4254/wjh.v17.i4.105660","url":null,"abstract":"<p><strong>Background: </strong>Liver cirrhosis (LC) affect millions of people worldwide. The pathogenesis of cirrhosis involves complex interactions between immune responses and gut microbiota. Recent studies have highlighted the role of the interleukin-36 (IL-36) subfamily in inflammation and immune regulation. However, the relationship between serum IL-36 subfamily levels and gut microbiota in cirrhosis patients remains unclear. This study aimed to explore the clinical significance of serum IL-36 subfamily levels and their association with gut microbiota in cirrhosis patients.</p><p><strong>Aim: </strong>To explore the clinical significance of serum IL-36 subfamily levels and their relationship with gut microbiota among cirrhosis patients.</p><p><strong>Methods: </strong>Sixty-one cirrhosis patients were enrolled from Lihuili Hospital of Ningbo University from May 2022 to November 2023 as the LC group and 29 healthy volunteers as the healthy control (HC) group. The serum expressions of IL-36α, IL-36β, IL-36γ, IL-36Ra, and IL-38 were measured through ELISA, while 16S rRNA gene sequencing was employed to rate microbial community in human fecal samples.</p><p><strong>Results: </strong>The serum levels of IL-36α, IL-36γ, IL-36Ra, and IL-38 in the LC group remarkably exceeded those in the HC group (<i>P</i> < 0.05). IL-36α, IL-36γ, and IL-38 were related positively to the Child-Pugh score (<i>P</i> < 0.05) and prominently exceeded those in the Child-Pugh C group (<i>P</i> < 0.05). The absolute abundance of harmful bacteria (<i>Bacteroides</i>, <i>Bifidobacterium</i>, <i>Faecalibacterium</i>) remarkably rose, while the beneficial bacteria (<i>Firmicutes</i>, <i>Bacteroides</i>, <i>Escherichia-Shigella</i>) notably decreased in the LC group (<i>P</i> < 0.05). IL-36α, IL-36γ, and IL-38 related positively to <i>Lactobacillus</i> (<i>P</i> < 0.05), while IL-38 negatively related to <i>Fusicatenibacter</i> (<i>P</i> < 0.05).</p><p><strong>Conclusion: </strong>IL-36γ and IL-38 show promise as potential biomarkers for LC progression, but further validation is required.</p>","PeriodicalId":23687,"journal":{"name":"World Journal of Hepatology","volume":"17 4","pages":"105660"},"PeriodicalIF":2.5,"publicationDate":"2025-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12038412/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144016751","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Combining nutraceuticals and a mediterranean diet for managing metabolic dysfunction associated with steatotic liver disease.","authors":"Fei-Yong Cheng, Cong Chen, Feng-Yong Wang, Bo-Huan Zhao","doi":"10.4254/wjh.v17.i4.104622","DOIUrl":"https://doi.org/10.4254/wjh.v17.i4.104622","url":null,"abstract":"<p><p>This study was performed by Cano Contreras <i>et al</i>, who explored the effects of alpha-lipoic acid (ALA) and Silybum marianum (SM) supplementation combined with a mediterranean diet (MD) on metabolic dysfunction-associated steatotic liver disease (MASLD). The randomized controlled design and use of transient elastography provide methodological strengths, whereas the focus on a Mexican cohort addresses a critical gap in regional MASLD research. Although improvements in visceral fat and controlled attenuation parameters (CAP) were observed, key metabolic markers, including transaminases and lipid profiles, showed no significant changes, raising concerns about the intervention's comprehensive metabolic impact. The reliance on CAP and the absence of mechanistic biomarker analysis limit insights into the antioxidant and anti-inflammatory pathways of ALA and SM. Future research should explore synergistic effects with other nutraceuticals, such as vitamin E and polyphenols, and include extended follow-up and patient stratification to assess long-term benefits and personalized therapeutic outcomes. Addressing these limitations could solidify the role of nutraceuticals in MASLD management and enable the development of more effective and sustainable interventions.</p>","PeriodicalId":23687,"journal":{"name":"World Journal of Hepatology","volume":"17 4","pages":"104622"},"PeriodicalIF":2.5,"publicationDate":"2025-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12038409/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144047705","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bile cast nephropathy: A systematic review of case reports and case series.","authors":"Iyiad Alabdul Razzak, Hind El Naamani, Dimo Dimitrov, Rebecca Morin, Bertrand L Jaber","doi":"10.4254/wjh.v17.i4.105120","DOIUrl":"https://doi.org/10.4254/wjh.v17.i4.105120","url":null,"abstract":"<p><strong>Background: </strong>Bile cast nephropathy (BCN) is suspected in the setting of liver disease and hyperbilirubinemia and is characterized by the formation of tubular bile casts and acute tubular injury. While postmortem studies reveal a high prevalence of BCN, little is known about this orphan acute kidney injury syndrome.</p><p><strong>Aim: </strong>To address this knowledge gap, we performed a systematic review of case reports and case series of BCN, focusing on risk factors, diagnostic criteria, clinical presentation, kidney biopsy findings, severity, treatment approaches, and outcomes.</p><p><strong>Methods: </strong>Electronic databases were searched to identify eligible studies of patients with possible, probable, or definite BCN, using pre-established criteria. Relevant variables were extracted and analyzed. We explored the impact of serum total bilirubin levels and alcoholic liver disease on BCN severity and outcomes by stratifying cases into total bilirubin tertiles and alcoholic <i>vs</i> non-alcoholic liver disease. Univariate and multivariable logistic regression analyses were used to examine factors associated with the composite outcome of dialysis requirement or death.</p><p><strong>Results: </strong>Sixty-seven case reports and six case series (involving 2 patients each) met the inclusion criteria, totaling 79 cases of BCN. The mean age was 48.3 years, and 83.5% were men. The most common cause of liver disease was drug-induced injury (30.4%), followed by infection (18.9%) and alcoholism (12.7%). BCN diagnosis was deemed definite, probable, and possible in 65.8%, 32.9%, and 1.3% of cases, respectively. Levels of serum creatinine, dialysis requirement, and renal recovery did not differ among the total bilirubin tertile groups. However, both initial and peak serum creatinine were significantly higher in the alcoholic liver disease group compared to the non-alcoholic group (<i>P</i> = 0.011 and <i>P</i> = 0.012, respectively). There was also a non-significant trend toward a higher incidence of dialysis requirement or death in the alcoholic liver disease group (80% <i>vs</i> 52%, <i>P</i> = 0.098). Finally, higher initial serum creatinine (per 1 mg/dL increase) was independently associated with dialysis requirement or death (adjusted odds ratio 1.291, 95% confidence interval: 1.032-1.615, <i>P</i> = 0.025).</p><p><strong>Conclusion: </strong>BCN is a common and potentially serious cause of acute kidney injury in patients with liver disease. The degree of hyperbilirubinemia does not appear to correlate with BCN severity or outcomes. However, in alcoholic liver disease, BCN is associated with a greater rise in serum creatinine and a trend toward worse outcomes compared to non-alcoholic liver disease. Serum creatinine may be a valuable predictor of BCN prognosis. Further studies are needed to develop non-invasive diagnostic tools and establish effective treatments for BCN.</p>","PeriodicalId":23687,"journal":{"name":"World Journal of Hepatology","volume":"17 4","pages":"105120"},"PeriodicalIF":2.5,"publicationDate":"2025-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12038420/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144021107","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multivariable prognostic models for post-hepatectomy liver failure: An updated systematic review.","authors":"Xiao Wang, Ming-Xiang Zhu, Jun-Feng Wang, Pan Liu, Li-Yuan Zhang, You Zhou, Xi-Xiang Lin, Ying-Dong Du, Kun-Lun He","doi":"10.4254/wjh.v17.i4.103330","DOIUrl":"https://doi.org/10.4254/wjh.v17.i4.103330","url":null,"abstract":"<p><strong>Background: </strong>Partial hepatectomy continues to be the primary treatment approach for liver tumors, and post-hepatectomy liver failure (PHLF) remains the most critical life-threatening complication following surgery.</p><p><strong>Aim: </strong>To comprehensively review the PHLF prognostic models developed in recent years and objectively assess the risk of bias in these models.</p><p><strong>Methods: </strong>This review followed the Checklist for Critical Appraisal and Data Extraction for Systematic Reviews of Prediction Modelling Studies and the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guideline. Three databases were searched from November 2019 to December 2022, and references as well as cited literature in all included studies were manually screened in March 2023. Based on the defined inclusion criteria, articles on PHLF prognostic models were selected, and data from all included articles were extracted by two independent reviewers. The PROBAST was used to evaluate the quality of each included article.</p><p><strong>Results: </strong>A total of thirty-four studies met the eligibility criteria and were included in the analysis. Nearly all of the models (32/34, 94.1%) were developed and validated exclusively using private data sources. Predictive variables were categorized into five distinct types, with the majority of studies (32/34, 94.1%) utilizing multiple types of data. The area under the curve for the training models included ranged from 0.697 to 0.956. Analytical issues resulted in a high risk of bias across all studies included.</p><p><strong>Conclusion: </strong>The validation performance of the existing models was substantially lower compared to the development models. All included studies were evaluated as having a high risk of bias, primarily due to issues within the analytical domain. The progression of modeling technology, particularly in artificial intelligence modeling, necessitates the use of suitable quality assessment tools.</p>","PeriodicalId":23687,"journal":{"name":"World Journal of Hepatology","volume":"17 4","pages":"103330"},"PeriodicalIF":2.5,"publicationDate":"2025-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12038414/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144014348","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Psoriasis, metabolic syndrome and methotrexate: Is this association suitable for a new subcategory in steatotic liver disease?","authors":"Luciana Agoglia, Maria Chiara Chindamo, Cristiane Villela-Nogueira","doi":"10.4254/wjh.v17.i4.102978","DOIUrl":"https://doi.org/10.4254/wjh.v17.i4.102978","url":null,"abstract":"<p><p>Psoriasis is a prevalent inflammatory disease that shares chronic inflammation pathways with the pathophysiology of metabolic syndrome (MetS), type-2 diabetes mellitus and atherosclerosis. A high prevalence of steatosis and advanced liver fibrosis has been described in psoriasis. The influence of MetS and its compounds, patatin-like phospholipase domain containing 3 and transmembrane 6 superfamily member 2 gene polymorphisms and the cumulative dose of methotrexate (MTX) in the progression of steatotic disease are still under debate. A suitable new classification for psoriasis-related liver disease, under the umbrella of steatotic liver disease (SLD), might be evaluated due to the potential impact of MTX on liver steatosis. Considering the interplay between the MetS, steatosis and MTX, a new definition for this complex disease might be discussed since it is not entirely addressed under the umbrella of SLD and metabolic-dysfunction associated SLD<i>.</i> Hence, shortly, a discussion could be raised on the feasible term \"Met-Drug SLD\", metabolic and drug-induced SLD, which comprises both metabolic dysfunction and drug-related SLD. This review aims to report the best evidence to accurately classify liver disease in psoriasis, considering the new definition of SLD, allowing appropriate management once it is carefully defined.</p>","PeriodicalId":23687,"journal":{"name":"World Journal of Hepatology","volume":"17 4","pages":"102978"},"PeriodicalIF":2.5,"publicationDate":"2025-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12038415/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144048880","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dual therapy with nucleos(t)ide analogues in the prevention of hepatitis B virus recurrence after liver transplantation: Two case reports.","authors":"Nicolás Ortiz-López, Maximiliano Acevedo, Tamara Vergara, Juan Pablo Roblero, Álvaro Urzúa, Máximo Cattaneo, Jaime Poniachik","doi":"10.4254/wjh.v17.i4.98660","DOIUrl":"https://doi.org/10.4254/wjh.v17.i4.98660","url":null,"abstract":"<p><strong>Background: </strong>Infection by the hepatitis B virus (HBV) represents a significant global socio-sanitary burden. While liver transplantation (LT) is an important therapeutic option, treatments that prevent HBV reinfection are necessary. The combination of anti-hepatitis B immunoglobulin (HBIG) and nucleoside/nucleotide analogs (NA) is the standard post-transplant treatment; however, there are limitations in using HBIG, particularly its cost. We present two illustrative clinical cases as examples of post-transplant management using dual NA therapy, unaccompanied by HBIG.</p><p><strong>Case summary: </strong>The first case involves a 42-year-old man with HBV-related cirrhosis, who, in the context of a diagnosis of hepatocellular carcinoma and hepatopulmonary syndrome, underwent LT without viremia at the time of transplantation. A lack of availability of HBIG led to the combined use of two NAs, entecavir, and tenofovir alafenamide-resulting in the negativization of hepatitis B surface antigen (HBsAg) and maintenance of a negative viral load in the post-transplant period. In the second case, a 63-year-old woman presented with acute hepatic failure due to HBV with viremia during transplantation. Combined therapy with entecavir and tenofovir alafenamide, again due to the unavailability of HBIG, ultimately led to the negativization of HBsAg and viral load.</p><p><strong>Conclusion: </strong>These cases suggest the efficacy of dual NA therapy in post-transplant HBV management, emphasizing the need to reconsider traditional treatment approaches.</p>","PeriodicalId":23687,"journal":{"name":"World Journal of Hepatology","volume":"17 4","pages":"98660"},"PeriodicalIF":2.5,"publicationDate":"2025-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12038423/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144064887","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Deadly intersection: Schistosomiasis, hepatopulmonary syndrome, and cirrhosis.","authors":"David Jerez Diaz, Patrick Twohig","doi":"10.4254/wjh.v17.i4.105583","DOIUrl":"https://doi.org/10.4254/wjh.v17.i4.105583","url":null,"abstract":"<p><p>In this editorial, we comment on the article by Rolim <i>et al</i> in <i>World Journal of Hepatology</i>, which highlights the impacts of hepatopulmonary syndrome (HPS) related to schistosomiasis in patients with and without cirrhosis. Schistosomiasis, a parasitic disease affecting millions worldwide, frequently leads to portal hypertension. Its outcomes are more devastating in cirrhosis than in non-cirrhotic portal hypertension, due to the complex interplay between cirrhosis and HPS, a severe pulmonary vascular complication. Cirrhosis distorts hepatic architecture, impairs portal blood flow, and triggers systemic vascular changes. Schistosomiasis exacerbates portal hypertension and inflammation, further injuring the liver. In non-cirrhotic portal hypertension, significant vascular resistance occurs, but preserved liver function mitigates systemic effects. In contrast, cirrhosis amplifies hypoxia, worsens pulmonary shunting, and predisposes patients to respiratory failure, infection, and death. In a retrospective study of 113 patients, Rolim <i>et al</i> found that cirrhosis had an impact on mortality, yet the presence of HPS did not significantly affect survival. While cirrhosis worsening outcomes are anticipated, HPS should theoretically worsen survival by impairing oxygenation. Early diagnosis, parasite control, and managing cirrhosis-related complications are critical for schistosomiasis-related liver disease. Understanding these differences underscores the importance of integrating liver health into global schistosomiasis management strategies.</p>","PeriodicalId":23687,"journal":{"name":"World Journal of Hepatology","volume":"17 4","pages":"105583"},"PeriodicalIF":2.5,"publicationDate":"2025-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12038416/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144039967","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cholestasis in hepatitis E virus infection.","authors":"Tatsuo Kanda, Reina Sasaki-Tanaka, Takeshi Yokoo, Kazunao Hayashi, Hiroteru Kamimura, Atsunori Tsuchiya, Shuji Terai","doi":"10.4254/wjh.v17.i4.99899","DOIUrl":"https://doi.org/10.4254/wjh.v17.i4.99899","url":null,"abstract":"<p><p>Hepatitis E virus (HEV) infection causes acute hepatitis, chronic hepatitis, particularly in compromised hosts, and various extrahepatic manifestations. HEV infection is reportedly associated with biliary-pancreatic diseases, such as gallstones, cholangitis, choledocholithiasis, and acute pancreatitis. Severe jaundice and prolonged cholestasis are also atypical manifestations of HEV infection. The mechanism and genes involved in cholestasis, namely sinusoidal uptake of blood, bile salt synthesis and secretion from hepatocytes to the canaliculus, have been elucidated. HEV infection triggers severe jaundice and prolonged cholestasis in patients with genetic variants in adenosine triphosphatase phospholipid transporting 8B1, adenosine triphosphate-binding cassette (ABC) protein B4, ABCB11, Myosin VB, and/or farnesoid X receptor (FXR/NR1H4). Although prolonged cholestasis associated with these gene mutations does not seem to be specific to HEV infection, these mutations may be risk factors related to the severity of HEV infection. The use of the pregnane X receptor agonist rifampicin and the peroxisome proliferator-activated receptor activator bezafibrate may be useful for the treatment of cholestasis. These studies provide new insights into understanding the mechanisms of severe jaundice and prolonged cholestasis caused by HEV infection.</p>","PeriodicalId":23687,"journal":{"name":"World Journal of Hepatology","volume":"17 4","pages":"99899"},"PeriodicalIF":2.5,"publicationDate":"2025-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12038413/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144039051","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hepatitis E virus infection-triggered intrahepatic cholestasis: A case report.","authors":"Stephan Drexler, Frederic Haedge, Susanne N Weber, Marcin Krawczyk, Matthias S Matter, Carol I Geppert, Achim Weber, Bruno Stieger, Christian Trautwein, Andreas E Kremer","doi":"10.4254/wjh.v17.i4.92426","DOIUrl":"https://doi.org/10.4254/wjh.v17.i4.92426","url":null,"abstract":"<p><strong>Background: </strong>Genetic disorders affecting hepatobiliary transporters can be triggered by various factors, resulting in marked cholestasis.</p><p><strong>Case summary: </strong>We report two patients who experienced a severe episode of intrahepatic cholestasis triggered by an acute hepatitis E virus infection. Following an extensive clinical examination that ruled out common causes of cholestatic liver damage, we conducted next-generation sequencing to determine the genetic profiles of the patients. The analysis revealed several known and unknown variants in genes associated with hepatobiliary transporters and bile salt regulation, including <i>ATP8B1</i>, <i>ABCB11</i>, <i>ABCB4</i>, <i>MYO5B</i>, and <i>FXR</i>. For a comprehensive understanding of the pathophysiology, we performed ClinVar analysis and utilized PolyPhen for bioinformatic prediction of functional impact. Both patients exhibited rapid symptom improvement and a decrease in hyperbilirubinemia when treated with either rifampicin or bezafibrate.</p><p><strong>Conclusion: </strong>Our findings introduce hepatitis E viral infection as a novel trigger for intrahepatic cholestasis, and we categorize the significance of the various genetic variants based on the current state of research.</p>","PeriodicalId":23687,"journal":{"name":"World Journal of Hepatology","volume":"17 4","pages":"92426"},"PeriodicalIF":2.5,"publicationDate":"2025-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12038418/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144017597","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}