World Journal of Hepatology最新文献

{"title":"Chromatin accessibility module identified by single-cell sequencing underlies the diagnosis and prognosis of hepatocellular carcinoma.","authors":"Xiao-Li Xi, Yi-Dong Yang, Hui-Ling Liu, Jie Jiang, Bin Wu","doi":"10.4254/wjh.v17.i6.107329","DOIUrl":"10.4254/wjh.v17.i6.107329","url":null,"abstract":"<p><strong>Background: </strong>Hepatocellular carcinoma (HCC) is notorious for its aggressive progression and dismal prognosis, with chromatin accessibility dynamics emerging as pivotal yet poorly understood drivers.</p><p><strong>Aim: </strong>To dissect how multilayered chromatin regulation sustains oncogenic transcription and tumor-stroma crosstalk in HCC, we combined multiomics single cell analysis.</p><p><strong>Methods: </strong>We integrated single-cell RNA sequencing and paired single-cell assay for transposase-accessible chromatin with sequencing data of HCC samples, complemented by bulk RNA sequencing validation across The Cancer Genome Atlas, Liver Cancer Institute, and GSE25907 cohorts. Cell type-specific chromatin architectures were resolved <i>via</i> ArchR, with regulatory hubs identified through peak-to-gene linkages and coaccessibility networks. Functional validation employed A485-mediated histone 3 lysine 27 acetylation suppression and small interfering RNA targeting <i>DGAT1</i>.</p><p><strong>Results: </strong>Malignant hepatocytes exhibited expanded chromatin accessibility profiles, characterized by increased numbers of accessible peaks and larger physical regions despite reduced peak intensity. Enhancer-like peaks enriched in malignant regulation, forming long-range hubs. Eighteen enhancer-like peak-related genes showed tumor-specific overexpression and diagnostic accuracy, correlating with poor prognosis. Intercellular coaccessibility analysis revealed tumor-stroma symbiosis <i>via</i> shared chromatin states. Pharmacological histone 3 lysine 27 acetylation inhibition paradoxically downregulated <i>DGAT1</i>, the hub gene most strongly regulated by chromatin accessibility. <i>DGAT1</i> knockdown suppressed cell proliferation.</p><p><strong>Conclusion: </strong>Multilayered chromatin reprogramming sustains HCC progression through tumor-stroma crosstalk and <i>DGAT1</i>-related oncogenic transcription, defining targetable epigenetic vulnerabilities.</p>","PeriodicalId":23687,"journal":{"name":"World Journal of Hepatology","volume":"17 6","pages":"107329"},"PeriodicalIF":2.5,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12210165/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144555096","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":"Machine learning to identify potential biomarkers for sarcopenia in liver cirrhosis.","authors":"Qian-Yu Liang, Jun Wang, Yun-Feng Yang, Kai Zhao, Rui-Li Luo, Ye Tian, Feng-Xia Li","doi":"10.4254/wjh.v17.i6.105332","DOIUrl":"10.4254/wjh.v17.i6.105332","url":null,"abstract":"<p><strong>Background: </strong>The prevalence of sarcopenia progressively increases with as liver function deteriorates. Muscle wasting has been shown to independently predict adverse outcomes in liver cirrhosis patients.</p><p><strong>Aim: </strong>To screen effective biomarkers for sarcopenia in liver cirrhosis.</p><p><strong>Methods: </strong>Untargeted metabolomics were performed on serum from 62 liver cirrhosis patients, including 41 with sarcopenia and 21 without sarcopenia. Candidate metabolite biomarkers were screened based on three machine-learning algorithms. The diagnostic or predictive value of potential biomarkers was evaluated by drawing receiver operating characteristic curves.</p><p><strong>Results: </strong>A total of 60 differential metabolites between cirrhotic sarcopenia and the non-sarcopenia group were identified. Kyoto Encyclopedia of Genes and Genomes pathway enrichment analysis revealed differential metabolites primarily involved in glycerophospholipid metabolism, alpha-linolenic acid metabolism, retrograde endocannabinoid signaling, and choline metabolism in cancer. Finally, four potential biomarkers were screened through machine learning algorithms, namely N-Acetylcarnosine, 2-Stearylcitrate, CerP (d18:1/12:0), and 3-Methyl-alpha-ionylacetate. Among these, N-Acetylcarnosine can provide better diagnostic accuracy.</p><p><strong>Conclusion: </strong>This study unveiled different plasma metabolic profiles of liver cirrhosis patients with and without sarcopenia. These valuable biomarkers have the potential to improve the prognosis of liver patients with cirrhosis by early detection or prediction of sarcopenia.</p>","PeriodicalId":23687,"journal":{"name":"World Journal of Hepatology","volume":"17 6","pages":"105332"},"PeriodicalIF":2.5,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12210171/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144555008","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":"Silent sabotage: How hepatitis B virus-miR-3 disarms innate immunity through cGAS-STING suppression.","authors":"Nida Ansari, Patrick Twohig","doi":"10.4254/wjh.v17.i6.106493","DOIUrl":"10.4254/wjh.v17.i6.106493","url":null,"abstract":"<p><p>In this editorial, we comment on the article by Xu <i>et al</i> published in the recent issue of the <i>World Journal of Hepatology</i>. The hepatitis B virus (HBV) has evolved sophisticated mechanisms to evade host innate immunity, a hallmark of its persistent infections. This study highlights a pivotal role for HBV-encoded microRNA, specifically HBV-miR-3, in undermining the cyclic GMP-AMP synthase (cGAS)- stimulator of interferon genes (STING)-IFN signaling axis. This pathway is critical for recognizing viral DNA and subsequent production of type I interferons, key antiviral cytokines. HBV-miR-3 achieves this immune evasion by directly downregulating the expression of cGAS, an essential DNA sensor, and STING, its downstream adaptor. By silencing these components, HBV-miR-3 disrupts the activation of downstream interferon regulatory factor 3 and Nuclear Factor Kappa-light-chain-enhancer of Activated B Cells transcription factors, thereby blunting interferon beta production and antiviral gene expression. This strategy allows HBV to persist in hepatocytes by dampening innate immune responses and contributes to immune tolerance, fostering chronic infection. Understanding the role of HBV-miR-3 provides novel insights into HBV pathogenesis and identifies potential therapeutic targets to restore antiviral immunity. Targeting HBV-miR-3 or reactivating the cGAS-STING-IFN pathway could offer promising strategies to counteract HBV immune evasion and resolve chronic infection.</p>","PeriodicalId":23687,"journal":{"name":"World Journal of Hepatology","volume":"17 6","pages":"106493"},"PeriodicalIF":2.5,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12210166/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144555014","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":"Gut microbiota in non-alcoholic fatty liver disease: Pathophysiology, diagnosis, and therapeutics.","authors":"Himani Pandey, Prabudh Goel, Varunvenkat M Srinivasan, Daryl W T Tang, Sunny H Wong, Devi Lal","doi":"10.4254/wjh.v17.i6.106849","DOIUrl":"10.4254/wjh.v17.i6.106849","url":null,"abstract":"<p><p>Non-alcoholic fatty liver disease (NAFLD), also referred to as metabolic-associated fatty liver disease, is among the most prevalent chronic liver conditions. In some cases, NAFLD may lead to liver inflammation and non-alcoholic steatohepatitis, which can eventually progress to liver cirrhosis and hepatocellular carcinoma. The pathophysiology of NAFLD is complex, involving both genetic and environmental factors. NAFLD is a multisystem disease linked to a higher likelihood of developing metabolic disorders such as type 2 diabetes, obesity, and cardiovascular and chronic kidney diseases. The gut-liver axis represents a key connection between the gut microbiota and the liver, and its disruption has been linked to NAFLD. Growing evidence underscores the significant role of gut microbiota in the onset and progression of NAFLD, with alterations in the gut microbiome and impaired gut barrier function. Studies have identified key microbiota signatures and metabolites linked to NAFLD, implicating oxidative stress, endotoxemia, and inflammatory pathways that further strengthen the connection between gut microbiota and NAFLD. Modulation of gut microbiota through diet and microbiota-centered therapies, such as next-generation probiotics and fecal microbiota transplantation, holds promise for treating NAFLD. In this review, we explore the key link between gut microbiota and the development and progression of NAFLD, as well as its potential applications in the diagnosis and treatment of the disease.</p>","PeriodicalId":23687,"journal":{"name":"World Journal of Hepatology","volume":"17 6","pages":"106849"},"PeriodicalIF":2.5,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12210170/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144555003","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":"Association between insulin and liver function tests, liver disease and cirrhosis in population-based cohorts with long term follow-up.","authors":"Andreas Schult, Kirsten Mehlig, Kurt Svärdsudd, Sven Wallerstedt, Cecilia Björkelund, Per-Olof Hansson, Henrik Zetterberg, Jerzy Kaczynski","doi":"10.4254/wjh.v17.i6.107160","DOIUrl":"10.4254/wjh.v17.i6.107160","url":null,"abstract":"<p><strong>Background: </strong>Insulin resistance is a cardiometabolic risk factor characterized by elevated insulin levels. It is associated with fatty liver disease and elevated liver function tests (LFT) in cross-sectional studies, but data from cohort studies are scarce.</p><p><strong>Aim: </strong>To investigate the association between insulin and pathological LFT, liver disease, and cirrhosis in a population-based retrospective cohort study.</p><p><strong>Methods: </strong>Anthropometric and cardiometabolic factors of 857 men and 1228 women from prospective cohort studies were used. LFT were obtained at two time points 8 years to 24 years after baseline. Liver disease diagnoses were obtained from nationwide registries. The association between insulin levels and the development of elevated LFT or liver disease and cirrhosis was analyzed.</p><p><strong>Results: </strong>Total follow-up was 54054 person-years for women and 27556 person-years for men. Insulin levels were positively correlated with elevated LFT during follow-up, whereas physical activity and coffee consumption were negatively correlated. Individuals with both insulin levels in the upper tertile and alcohol consumption above MASLD thresholds had an increased risk for both liver disease, adjusted hazard ratio (aHR) of 4.3 (95%CI: 1.6-14.6) and cirrhosis (aHR = 4.8, 95%CI: 1.6-14.6).</p><p><strong>Conclusion: </strong>This population-based study provides evidence that high insulin levels are a risk factor for development of elevated liver enzymes and clinically manifest liver disease. The results support the concept of metabolic dysfunction associated liver disease.</p>","PeriodicalId":23687,"journal":{"name":"World Journal of Hepatology","volume":"17 6","pages":"107160"},"PeriodicalIF":2.5,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12210178/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144555095","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":"Oncohepatology: Navigating liver injury in the era of modern cancer therapy.","authors":"Shuo-Feng Li, Xu Ouyang, Shi Feng, Ming-Zhong Wan, Kai-Nan Zhou, Bo-Yuan Wen, Yu-Ze Yin, Hang Yi, Xin-Yuan Chen","doi":"10.4254/wjh.v17.i6.106932","DOIUrl":"10.4254/wjh.v17.i6.106932","url":null,"abstract":"<p><p>In recent years, the rapid evolution of cancer therapies has markedly increased patient survival rates. However, the incidence of adverse events caused by anticancer treatments remains high, leading to significant clinical challenges. As the central hub of drug metabolism and detoxification, the liver is susceptible to therapeutic insults. The specific mechanisms of liver injury caused by different types of antineoplastic treatments vary. Chemotherapy induces hepatic damage <i>via</i> oxidative stress and mitochondrial dysfunction, whereas targeted therapy disrupts signaling pathways in hepatic cells. Immunotherapy triggers immune-mediated hepatitis through cytokine storms and immune cell infiltration, and radiation therapy causes hepatic microvascular injury. Additionally, patients with preexisting chronic liver diseases (such as cirrhosis, hepatitis B/C, or nonalcoholic fatty liver disease) are more likely to face increased risks of hepatic injury during cancer treatment. Therefore, early detection and timely treatment are crucial for these high-risk populations. This review introduces the emerging field of \"oncohepatology\", which illuminates the mechanisms underlying hepatic injury due to cancer treatments, summarizes the influence and management of preexisting liver disease during cancer treatment, analyzes diagnostic and therapeutic strategies for cancer treatment-associated liver function damage, and discusses potential future research directions to provide valuable insights for liver injury management in clinical oncology.</p>","PeriodicalId":23687,"journal":{"name":"World Journal of Hepatology","volume":"17 6","pages":"106932"},"PeriodicalIF":2.5,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12210168/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144555010","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":"Sex-related differences in patients with chronic hepatitis C infection treated with direct-acting antiviral drugs.","authors":"Krystyna Dobrowolska, Dorota Zarębska-Michaluk, Malgorzata Pawłowska, Magdalena Tudrujek-Zdunek, Beata Lorenc, Hanna Berak, Ewa Janczewska, Włodzimierz Mazur, Justyna Janocha-Litwin, Jakub Klapaczyński, Marek Sitko, Dorota Dybowska, Anna Parfieniuk-Kowerda, Anna Piekarska, Jerzy Jaroszewicz, Robert Flisiak","doi":"10.4254/wjh.v17.i6.105899","DOIUrl":"10.4254/wjh.v17.i6.105899","url":null,"abstract":"<p><strong>Background: </strong>Sex is one of the known factors influencing the risk of hepatitis C virus (HCV) infection and the natural course of the disease.</p><p><strong>Aim: </strong>To evaluate sex-related differences in the characteristics and outcomes of direct-acting antiviral (DAA) treatment in HCV-infected patients.</p><p><strong>Methods: </strong>The study included consecutive 9457 women and 9529 men, treated with DAA for chronic HCV infection from July 2015 to the end of 2023 whose data were collected in the nationwide multicenter retrospective Epiter-2 project. Women were divided into pre-menopausal (15-44 years), menopausal (45-55 years) and post-menopausal (> 55 years) and compared with age-matched men.</p><p><strong>Results: </strong>Regardless of age, women had a significantly lower body mass index, prevalence of genotype 3 infection and proportion of cirrhosis compared to men. Psychiatric disorders (except depression), hepatitis B virus and human immunodeficiency virus co-infections, as well as alcohol and drug addiction, were significantly less common in women than in men in all age groups. The sustained virologic response was significantly higher in women compared to men in each age group and amounted to 98.4% and 96.6%, respectively (<i>P</i> < 0.001). Independent predictors of treatment failure in women were genotype 3 infection, cirrhosis and postmenopausal age. Mild adverse events were reported significantly more often by women, regardless of age with the highest percentage in the postmenopausal group.</p><p><strong>Conclusion: </strong>DAA treatment is more effective in women than in men, regardless of age, but in postmenopausal women, the effectiveness is relatively the lowest.</p>","PeriodicalId":23687,"journal":{"name":"World Journal of Hepatology","volume":"17 6","pages":"105899"},"PeriodicalIF":2.5,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12210159/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144555013","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":"Dietary ω-3 polyunsaturated fatty acid intake improves skeletal muscle mass in patients with metabolic dysfunction-associated fatty liver disease: A nationwide cross-sectional study.","authors":"Li-Zhan Bie, Chao Wu, Jia-Lu Wang","doi":"10.4254/wjh.v17.i6.107931","DOIUrl":"10.4254/wjh.v17.i6.107931","url":null,"abstract":"<p><strong>Background: </strong>Improving our understanding of whether increased dietary intake of ω-3 polyunsaturated fatty acids (PUFAs) is beneficial for increasing skeletal muscle mass in patients with metabolic dysfunction-associated fatty liver disease (MAFLD) could provide an important clinical evidence base for the development of relevant nutritional guidelines.</p><p><strong>Aim: </strong>To investigate the effect of total dietary ω-3 PUFAs and their subtypes on skeletal muscle mass in MAFLD.</p><p><strong>Methods: </strong>This cross-sectional study involved 2316 participants from four National Health and Nutrition Examination Survey cycles between 2011 and 2018. Dietary intake of ω-3 PUFAs was collected through 24-hour dietary recall interviews. Appendicular skeletal muscle mass index (ASMI) was calculated by dividing ASM in kilograms by height squared.</p><p><strong>Results: </strong>The multiple linear regression model showed significant relationships for dietary intake of total ω-3 PUFAs with higher ASMI (β: 0.06, 95%CI: 0.01-0.11) in MAFLD patients. Dietary a-linolenic acid (ALA) (β: 0.06, 95%CI: 0.01-0.12), docosapentaenoic acid (β: 1.28, 95%CI: 0.01-2.54), and docosahexaenoic acid (DHA) (β: 0.19, 95%CI: 0.01-0.37) were significantly associated with higher ASMI, while intake of stearidonic acid and eicosapentaenoic acid did not improve ASMI. In patients with high probability of liver fibrosis, dietary intake of ALA was associated with higher ASMI (β: 0.11, 95%CI: 0.03-0.18). Stratified analysis found that DHA was associated with higher ASMI in patients with obesity and higher metabolic risk.</p><p><strong>Conclusion: </strong>Increasing dietary intake of ω-3 PUFAs improved skeletal muscle health in patients with MAFLD. Patient with obesity and higher metabolic risk were more likely to benefit from intake of DHA.</p>","PeriodicalId":23687,"journal":{"name":"World Journal of Hepatology","volume":"17 6","pages":"107931"},"PeriodicalIF":2.5,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12210158/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144555000","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":"Relationship between glucagon and metabolic dysfunction-associated steatotic liver disease in patients with type 2 diabetes mellitus.","authors":"Yi Sun, Ping Huang, Xiao-Qin Zhao, Zhu-Qi Tang, Tong-Tong Xu, Xin-Wei Wang, Zong-Xian Qi, Wei-Rong Lin, Min-You Li, Yun-Juan Gu","doi":"10.4254/wjh.v17.i6.104693","DOIUrl":"10.4254/wjh.v17.i6.104693","url":null,"abstract":"<p><strong>Background: </strong>Glucagon (GCG) plays an important role in both diabetes and metabolic dysfunction-associated steatotic liver disease (MASLD).</p><p><strong>Aim: </strong>To investigate the relationship between GCG and the development of MASLD in patients with type 2 diabetes mellitus (T2DM) and the possible influencing factors.</p><p><strong>Methods: </strong>A total of 212 T2DM patients were enrolled. GCG concentrations were measured using the chemiluminescence method. Fibro touch ultra sound attention parameter was used to determine the occurrence of MASLD. Multivariate logistic regression analyses were employed to assess the correlation between GCG levels and MASLD severity in T2DM patients.</p><p><strong>Results: </strong>The ultrasound attenuation parameter of T2DM patients was positively correlated with GCG, insulin (INS), C-peptide (CP), INS resistance, obesity related indicators (body mass index, waist circumference, percent body fat, basal metabolic rate, visceral fat area, fat free mass index, fat mass index, skeletal muscle index), liver cirrhosis related indicators [liver stiffness measurement (LSM), gamma glutamyl transpeptidase to platelet ratio, alanine aminotransferase], serum uric acid, diastolic blood pressure and triglyceride, while were negative correlated with age, fibrosis 4 score and high-density lipoprotein cholesterol (all <i>P</i> < 0.05). According to the multivariate logistic regression model, the T2DM patients with fasting GCG concentrations above the cut-off value had a significant increased risk of MASLD (OR: 3.068; 95%CI: 1.333-7.064; <i>P</i> = 0.008). Also, an increased concentration of fasting CP (OR: 1.965; 95%CI: 1.323-2.918; <i>P</i> = 0.001) and LSM (OR: 1.422; 95%CI: 1.16-1.743; <i>P</i> = 0.001) were significantly associated with a higher risk of MASLD in T2DM patients.</p><p><strong>Conclusion: </strong>Fasting GCG, fasting CP and LSM are risk factors for MASLD in T2DM patients.</p>","PeriodicalId":23687,"journal":{"name":"World Journal of Hepatology","volume":"17 6","pages":"104693"},"PeriodicalIF":2.5,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12210176/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144555011","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":"Adult presentation of Shwachman-Diamond syndrome complicated by liver cirrhosis and pancreatic fat infiltration: A case report.","authors":"Hai-Jun Guo","doi":"10.4254/wjh.v17.i6.108558","DOIUrl":"10.4254/wjh.v17.i6.108558","url":null,"abstract":"<p><strong>Background: </strong>Shwachman-Diamond syndrome (SDS) is a rare genetic disorder that affects multiple organs, primarily the liver. Most patients are diagnosed during infancy or early childhood. As they grow older, the majority of affected children may experience spontaneous remission, and cases of cirrhosis in adults are rarely reported.</p><p><strong>Case summary: </strong>A 36-year-old male patient presented with massive ascites. Laboratory tests revealed pancytopenia and a serum-ascites albumin gradient greater than 1.1 g/dL. An abdominal computed tomography scan demonstrated cirrhosis, splenomegaly, pancreatic fat infiltration, and a substantial accumulation of peritoneal fluid. Gastroscopy identified esophageal varices. Liver stiffness measurement indicated a value of 32.7 kPa. Based on the results of auxiliary examinations, common causes of cirrhosis were excluded, and a mutation in the <i>Shwachman-Bodian-Diamond syndrome</i> gene was ultimately identified through whole-exome sequencing. The patient was diagnosed with cirrhosis secondary to SDS. Following the correction of hypoalbuminemia and administration of diuretics, the patient's ascites resolved.</p><p><strong>Conclusion: </strong>Patients with liver cirrhosis who also exhibit pancreatic fat infiltration and pancytopenia necessitate further exon testing to exclude the possibility of SDS.</p>","PeriodicalId":23687,"journal":{"name":"World Journal of Hepatology","volume":"17 6","pages":"108558"},"PeriodicalIF":2.5,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12210156/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144555093","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}