中华肝脏病杂志最新文献

{"title":"[Exploring the relationship between alcohol intake and all-cause mortality in participants with MASLD and MetALD: a study based on NHANES III data].","authors":"L Y Jia, F J Rui, X Y Wu, S S Zhou, Y J Chen, C Wu, J P Shi, W H Wu, J Li","doi":"10.3760/cma.j.cn501113-20241018-00547","DOIUrl":"https://doi.org/10.3760/cma.j.cn501113-20241018-00547","url":null,"abstract":"<p><p><b>Objective:</b> To evaluate the association between different levels of alcohol intake and all-cause mortality in metabolic dysfunction-associated steatotic liver disease（MASLD）and alcohol-related/associated liver disease（MetALD）<b>.</b> <b>Method:</b> This study included participants aged 20 to 74 who were diagnosed with hepatic steatosis by ultrasound. The data were derived from the Third National Health and Nutrition Examination Survey（NHANES Ⅲ）conducted in the United States from 1988 to 1994. Multivariable-adjusted hazard ratios（aHR）and their 95% confidence intervals（CI）were calculated by Cox proportional risk regression modelling to assess the effect of alcohol consumption levels on all-cause mortality. Participants were categorized into three groups based on daily alcohol intake：low，moderate，and high consumption groups. <b>Results:</b> A total of 2 322 participants were included，with 50.2% males（1 166/2 322），and median age 42.0（31.3-57.0）years. During a median follow up of 316.0（270.0-337.0）months，the overall mortality rate was 1.48% per person-year. The all-cause mortality were 1.38%，1.67% and 2.10% per person-year for those participants in three alcohol intake groups. After adjusting for covariates，daily moderate alcohol intake group（adjusted hazard ratio［aHR］=1.37，95% <i>CI</i> 1.12-1.67，<i>P</i>=0.002），and daily high alcohol intake group（aHR=1.45，95% <i>CI</i> 1.17-1.80，<i>P</i>=0.001），were independently associated with increased all-cause mortality. In subgroup analysis by diabetes status and age，there were significant differences in all-cause mortality across various levels of alcohol intake among non-type 2 diabetes mellitus（T2DM）participants under 60 years old，but not among non-T2DM participants over 60 years old，and T2DM participants of all ages. <b>Conclusion:</b> Alcohol intake has a dose-dependent negative impact on MASLD and MetALD patients. The risk of all-cause mortality significantly increases with higher alcohol intake. To evaluate the association between different levels of alcohol intake and all-cause mortality in metabolic dysfunction-associated steatotic liver disease（MASLD）and alcohol-related/associated liver disease（MetALD）.</p>","PeriodicalId":24006,"journal":{"name":"中华肝脏病杂志","volume":"28 ","pages":"1-10"},"PeriodicalIF":0.0,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143587491","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Research progress on the mechanistic role and constituents of hepatic macrophages during the occurrence and development of hepatic fibrosis].","authors":"R X Liu, J F Liu, P Xu","doi":"10.3760/cma.j.cn501113-20240103-00006","DOIUrl":"10.3760/cma.j.cn501113-20240103-00006","url":null,"abstract":"<p><p>Macrophages are the key cells in the process of hepatic fibrosis. Therefore, they promote the progression and regression of liver fibrosis by participating in all stages. The treatment of liver fibrosis is significantly identified by the main subtypes of intrahepatic macrophages. This article summarizes the types and functions of macrophages according to the inflammatory phenotype, origin, and surface markers and their effect on fibrosis; introduces the new subtypes and mode of action in the occurrence and development of hepatic fibrosis, as revealed by the single-cell sequencing technique; and analyzes the limitations of traditional antifibrotic therapy and the advantages of macrophage-targeting therapeutics, which could indicate the new direction for the study of new macrophage subtypes in hepatic fibrosis.</p>","PeriodicalId":24006,"journal":{"name":"中华肝脏病杂志","volume":"33 2","pages":"198-204"},"PeriodicalIF":0.0,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143568423","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Analysis of <i>PIKFYVE</i> gene expression, clinical significance, and experimental validation based on TCGA database in hepatocellular carcinoma].","authors":"L M Wen, Y L Guo, D X Zheng, Q Hou, W Dai, X Gao, J H Yang","doi":"10.3760/cma.j.cn501113-20240402-00168","DOIUrl":"10.3760/cma.j.cn501113-20240402-00168","url":null,"abstract":"&lt;p&gt;&lt;p&gt;&lt;b&gt;Objective:&lt;/b&gt; To experimentally validate clinical samples, analyze the mRNA expression of the FYVE domain containing phosphatidylinositol 3-phosphate 5 kinase (&lt;i&gt;PIKFYVE&lt;/i&gt;) gene, and its clinical significance based on the Cancer Genome Atlas (TCGA) database in hepatocellular carcinoma (HCC). &lt;b&gt;Methods:&lt;/b&gt; Data information on 424 clinical samples (including 374 cases of HCC tissues and 50 cases of non-tumorous liver tissues) were collected based on the TCGA database. Cox regression analysis and the Kaplan-Meier method were used to analyze the relationship between mRNA expression of the &lt;i&gt;PIKFYVE&lt;/i&gt; gene and the clinical characteristics as well as survival prognosis in patients with HCC. The relationship between the &lt;i&gt;PIKFYVE&lt;/i&gt; gene and immune cell infiltration was examined by correlation analysis with 24 kinds of immune cells. In addition, the mRNA expression level of the &lt;i&gt;PIKFYVE&lt;/i&gt; gene and RAC-alpha serine/threonine-protein kinase (&lt;i&gt;AKT1&lt;/i&gt;), phosphatase and tensin homolog (&lt;i&gt;PTEN&lt;/i&gt;), protein kinase C alpha (&lt;i&gt;PRKCA&lt;/i&gt;), inositol polyphosphate-5-phosphatase (&lt;i&gt;INPP5D&lt;/i&gt;), phosphoinositide-3-kinase regulatory subunit 1 (&lt;i&gt;PIK3R1&lt;/i&gt;), inositol polyphosphate 4-phosphatase type II (&lt;i&gt;INPP4B&lt;/i&gt;) and phospholipase C beta 4 (&lt;i&gt;PLCB4&lt;/i&gt;) gene correlations were analyzed in HCC tissues. At the same time, paraffin sections of highly differentiated, moderately differentiated, poorly differentiated, and non-tumor liver tissues from patients with HCC were collected from the Department of Pathology of the First Affiliated Hospital of Xinjiang Medical University. The histopathological observation was performed by HE staining. Immunohistochemistry was used to verify the expression levels of the PIKFYVE and Ki67 proteins in each clinical sample. The t-test was used for intergroup comparison of continuous data. The &lt;i&gt;χ&lt;/i&gt;&lt;sup&gt;2&lt;/sup&gt; test and Wilcoxon rank sum test were used for intergroup comparison of enumeration data. The Kaplan-Meier method was used for survival analysis. &lt;b&gt;Results:&lt;/b&gt; The expression level of the &lt;i&gt;PIKFYVE&lt;/i&gt; gene was higher in the HCC tumor than that in normal liver tissue (&lt;i&gt;P&lt;/i&gt;&lt;0.01). The overall survival time of patients was significantly longer in the low expression group than that in the high expression group (&lt;i&gt;HR&lt;/i&gt;=1.57, 95%&lt;i&gt;CI&lt;/i&gt;: 1.10～2.25, &lt;i&gt;P&lt;/i&gt;=0.014). The results of univariate Cox regression analysis showed that tumor stage, pathological grade, tumor status, residual tumor, and &lt;i&gt;PIKFYVE&lt;/i&gt; expression level all had an effect on OS (&lt;i&gt;P&lt;/i&gt;&lt;0.05). The PIKFYVE prognostic risk model had a proportionate score of &lt;i&gt;HR&lt;/i&gt;=1.533 (95%&lt;i&gt;CI&lt;/i&gt;: 1.077～2.181, &lt;i&gt;P&lt;/i&gt;=0.018). Multivariate Cox risk regression analysis showed that the PIKFYVE prognostic risk model had a proportionate score of &lt;i&gt;HR&lt;/i&gt;=1.481 (95%&lt;i&gt;CI&lt;/i&gt;: 0.886～2.476, &lt;i&gt;P&lt;/i&gt;=0.134) and an area under the receiver operating characteristic curve of 0.559, indicating that it had predictive value for survival predic","PeriodicalId":24006,"journal":{"name":"中华肝脏病杂志","volume":"32 ","pages":"159-169"},"PeriodicalIF":0.0,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142629210","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Analysis of the results of the Fuxing Program Action for micro-elimination of hepatitis C in Zhuhai].","authors":"X C Zheng, M D Ou, Y Li, Y Q Zou, L D Qiu, Z S Hong, J Y Xia","doi":"10.3760/cma.j.cn501113-20240224-00091","DOIUrl":"10.3760/cma.j.cn501113-20240224-00091","url":null,"abstract":"&lt;p&gt;&lt;p&gt;&lt;b&gt;Objective:&lt;/b&gt; The Fuxing Program was established in Zhuhai as an action plan to micro-eliminate hepatitis C in response to the World Health Organization's goal of eliminating hepatitis C by 2030. Therefore, the effectiveness of this program in terms of hepatitis C screening, treatment, follow-up, and other aspects is evaluated here. &lt;b&gt;Methods:&lt;/b&gt; The \"Fuxing Project\" was established in May 2021 under the supervision of the Zhuhai Medical Quality Control Center for Infectious Diseases. A bridge was formed among the governmental entities, hospitals at all levels, and the community to train hepatitis C prevention and control strategies. Hepatitis C screening, publicity, and educational awareness were conducted in-and out-of-hospital. The responsibility for the diagnosis, treatment, and follow-up of a patient with hepatitis C was assigned to the staff. The screening and treatment rates of hepatitis C in hospitals before and after the initiation of the project were compared and analyzed using the &lt;i&gt;χ&lt;/i&gt;&lt;sup&gt;2&lt;/sup&gt; test or Fisher's exact test. The hepatitis C virus (HCV) infection and treatment status were investigated and analyzed among the general population, high-risk populations such as human immunodeficiency virus (HIV) infection, drug addicts, and the population residing in supervised sites within Zhuhai communities, rural areas, schools, or factories. &lt;b&gt;Results:&lt;/b&gt; Anti-HCV positivity rate (0.82% vs. 0.43%, &lt;i&gt;P&lt;/i&gt;&lt;0.001), HCV RNA detection rate (98.1% vs. 59.5%, &lt;i&gt;P&lt;/i&gt;&lt;0.001), HCV RNA detection positivity rate (52.56% vs. 29.76%, &lt;i&gt;P&lt;/i&gt;&lt;0.001), HCV RNA positivity rate (0.4% vs. 0.13%, &lt;i&gt;P&lt;/i&gt;&lt;0.001), and hepatitis C treatment rate (76.76% vs. 31.97%, &lt;i&gt;P&lt;/i&gt;&lt;0.001) were significantly higher among the inpatient population after the Fuxing Program initiation than before. The HCV RNA detection rate (58.52% vs. 6.93%, &lt;i&gt;P&lt;/i&gt;&lt;0.001) and HCV RNA detection positivity rate (77.72% vs. 29.41%, &lt;i&gt;P&lt;/i&gt;&lt;0.001) in Zhuhai were significantly higher after the Fuxing Program initiation than before. Anti-HCV positivity rate (0.46% vs. 1.28%, &lt;i&gt;P&lt;/i&gt;=0.009) and HCV RNA (0.32% vs. 0.99%, &lt;i&gt;P&lt;/i&gt;=0.03) were significantly lower in the Zhuhai general population of urban communities than those of the general population in rural areas. The HCV infection rate was more than three times higher in rural populations than in urban populations. Anti-HCV positivity rate, HCV RNA positivity rate, HCV RNA detection positivity rate, and hepatitis C treatment rates were 2.64% (31/1 175), 3.40% (69/2 022) and 94.4% (34/36), 2.64% (31/1 175), 2.72% (55/2 022), 50.00% (18/36), and 100% (31/31), 79.71% (55/69) and 52.94% (18/34), and 100% (31/31), 0 (0/55) and 55.55% (10/18) among the HIV infection, supervised population under supervised sites, and methadone maintenance treatment clinic population, respectively. Anti-HCV positivity rate (4.15% vs. 0.72%, &lt;i&gt;P&lt;/i&gt;&lt;0.001) and HCV RNA (3.22% vs. 0.53%, &lt;i&gt;P&lt;/i&gt;&lt;0.001) were significantly higher in the high-ri","PeriodicalId":24006,"journal":{"name":"中华肝脏病杂志","volume":"33 2","pages":"135-142"},"PeriodicalIF":0.0,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143568259","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Research progress in the extent of hepatocellular carcinoma in the year 2024].","authors":"Y M Nan, T G Miao, S X Zhao","doi":"10.3760/cma.j.cn501113-20250202-00048","DOIUrl":"10.3760/cma.j.cn501113-20250202-00048","url":null,"abstract":"","PeriodicalId":24006,"journal":{"name":"中华肝脏病杂志","volume":"33 2","pages":"121-124"},"PeriodicalIF":0.0,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143568336","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Analysis of epidemiological characteristics of hepatitis B mortality status from 2006 to 2021 among Chinese residents].","authors":"R H Wang, J J Hu, Z Li, X Han","doi":"10.3760/cma.j.cn501113-20240801-00356","DOIUrl":"10.3760/cma.j.cn501113-20240801-00356","url":null,"abstract":"<p><p><b>Objective:</b> To analyze and predict the epidemiological characteristics of hepatitis B mortality status among Chinese residents from 2006 to 2021 and 2022 to 2027, so as to provide a reference for hepatitis B prevention and control. <b>Methods:</b> The dataset of hepatitis B death cases from 2006 to 2021 published by the Chinese Center for Disease Control and Prevention was collected. The age was standardized using the population structure in 2000 as the standard population. The crude mortality rate (CMR) and age-standardized mortality rate (ASMR) were calculated for hepatitis B. The epidemiological distribution characteristics of hepatitis B deaths in terms of region, gender, age, and time were analyzed. The Joinpoint regression analysis model was used to analyze the changing trend. The gray model was used to predict the CMR and ASMR of hepatitis B from 2022 to 2027. <b>Results:</b> A total of 77 722 cases died of hepatitis B from 2006 to 2021, with an average CMR and ASMR of 2.69/100 000 and 2.00/100 000, respectively. The ASMR of male and female showed an overall downward trend, with an average annual percentage change (AAPC) of -5.4 (95%<i>CI</i>: -8.1 to -2.7, <i>P</i><0.001) and -5.7 (95%<i>CI</i>: -8.4 to -3.0, <i>P</i><0.001), respectively. The ASMR of urban and rural areas showed an overall downward trend, with an AAPC of -5.0 (95%<i>CI</i>: -7.7 to -2.2, <i>P</i>=0.001) and -5.7 (95%<i>CI</i>: -9.0 to -2.4, <i>P</i>=0.001), respectively. The average ASMR of hepatitis B from 2006 to 2021 in western, central, and eastern China was 2.86/100,000, 2.05/100,000 and 1.42/100,000, respectively, and the overall trend was downward. The gray model prediction results showed that the CMR of hepatitis B from 2022 to 2027 among Chinese residents was 2.36/100 000, 2.29/100 000, 2.22/100 000, 2.16/100 000, 2.10/100 000 and 2.03/100 000, respectively, while the ASMR was 1.37/100 000, 1.30/100 000, 1.23/100 000, 1.16/100 000, 1.10/100 000 and 1.04/100 000, respectively. <b>Conclusions:</b> The CMR and ASMR of hepatitis B have a declining trend year by year among Chinese residents, and further progress has been made in the prevention and treatment. The key focus and emphasis of future work should be to strengthen the screening and prevention of hepatitis B in rural areas, western regions, male demographics, targeted preventive and control measure formulations, and the lowering of mortality rates.</p>","PeriodicalId":24006,"journal":{"name":"中华肝脏病杂志","volume":"33 ","pages":"128-134"},"PeriodicalIF":0.0,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142915157","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Strategies of statins for the prevention and treatment of hepatocellular carcinoma].","authors":"T Tong, J F Li, L Z Shi, L T Zhang","doi":"10.3760/cma.j.cn501113-20231207-00269","DOIUrl":"10.3760/cma.j.cn501113-20231207-00269","url":null,"abstract":"<p><p>Hepatocellular carcinoma (HCC) is a kind of malignant tumor with an extremely high morbidity and mortality incidence rate. Although some new progress has been made in recent treatment, the overall prognosis is still poor. Therefore, the prevention and treatment of HCC have important clinical significance. Statin drugs are mainly used for the treatment of hypercholesterolemia and the prevention of cardiovascular and cerebrovascular diseases. In recent years, an increasing number of research results have shown that statins have advantages in preventing the occurrence and improving the prognosis of HCC. This paper reviews the new progress performed in the mechanism of statin drug and the current clinical prevention and treatment for HCC.</p>","PeriodicalId":24006,"journal":{"name":"中华肝脏病杂志","volume":"33 ","pages":"191-197"},"PeriodicalIF":0.0,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142915657","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Expression of YARS1 in hepatocellular carcinoma and its prognostic effect].","authors":"L H Hu, J Pan, H Cheng, T T Yao, J D Qian, L J Cao, M Chai, J Y Chai, G Q Wang, Y Wang","doi":"10.3760/cma.j.cn501113-20231203-00259","DOIUrl":"10.3760/cma.j.cn501113-20231203-00259","url":null,"abstract":"<p><p><b>Objective:</b> To explore the expression of <i>YARS1</i>, the subform of protein-based tRNA synthase (<i>YARS1</i>), and its prognostic effect on the analysis of gene set enrichment in hepatocellular carcinoma <b>Methods:</b> The expressional condition of the <i>YARS1</i> gene in tumor tissue samples (374 cases) and adjacent tissue samples (50 cases) of hepatocellular carcinoma patients was compared and recorded by mining the Cancer Genome Atlas database. Hepatocellular carcinoma patients were divided into high expression and low expression groups according to this data. Logistic regression was used to analyze the relationship between <i>YARS1</i> and the clinical pathological characteristics of hepatocellular carcinoma patients. The effect of <i>YARS1</i> expression on the prognosis of hepatocellular carcinoma patients was analyzed by the Kaplan-Meier method and log-rank test. The prognostic value of the <i>YARS1</i> gene for hepatocellular carcinoma was analyzed by univariate and multivariate Cox regression. Gene set enrichment analysis was used to evaluate the gene pathways related to <i>YARS1</i> in the occurrence and development of hepatocellular carcinoma. <b>Results:</b> The expression of the <i>YARS1</i> gene was higher in hepatocellular carcinoma tissue than in normal tissue (<i>P</i><0.001). The expression level of <i>YARS1</i> was correlated with the grade of patients (<i>P</i><0.05), but not with age, gender, TNM stage, and others (<i>P</i>>0.05). The results of Kaplan-Meier method and log-rank test showed that the survival rate was lower in patients with high <i>YARS1</i> gene expression than that of patients with low <i>YARS1</i> gene expression (<i>P</i><0.001). The results of multivariate Cox regression analysis showed that <i>YARS1</i> was used as an independent prognostic factor for hepatocellular carcinoma [hazard ratio=1.10, 95% confidence interval (1.050-1.156), <i>P</i><0.001]. The results of gene set enrichment analysis showed that <i>YARS1</i> was involved in pyrimidine metabolism, purine metabolism, aminoacyl tRNA biosynthesis, fatty acid metabolism, ppar signal transduction pathway, oocyte meiosis, amino acid and nucleotide sugar metabolism, RNA degradation, complement pathway, valine and isoleucine degradation, spliceosome, and other pathways. <b>Conclusion:</b> The high expression of <i>YARS1</i> is associated with the progression and prognosis of hepatocellular carcinoma. Therefore, this gene is expected to become a novel biomarker and a sort of target for biological therapy in hepatocellular carcinoma.</p>","PeriodicalId":24006,"journal":{"name":"中华肝脏病杂志","volume":"33 2","pages":"151-158"},"PeriodicalIF":0.0,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143568268","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Research progress in the field of drug-induced liver injury in the year 2024].","authors":"Y Zhi, Y N Dong, Y M Mao","doi":"10.3760/cma.j.cn501113-20250205-00049","DOIUrl":"10.3760/cma.j.cn501113-20250205-00049","url":null,"abstract":"","PeriodicalId":24006,"journal":{"name":"中华肝脏病杂志","volume":"33 2","pages":"125-127"},"PeriodicalIF":0.0,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143568416","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Clinical features and genetic study of four cases of pediatric acute liver failure caused by <i>NBAS</i> gene variants].","authors":"J D Yu, H Zhao, Y H Fang, Y Y Luo, J G Lou, J Chen","doi":"10.3760/cma.j.cn501113-20240611-00291","DOIUrl":"10.3760/cma.j.cn501113-20240611-00291","url":null,"abstract":"<p><p><b>Objective:</b> To analyze the clinical and genetic features of four children with pediatric acute liver failure (PALF) caused by neuroblastoma-amplified sequence (<i>NBAS</i>) gene variant, as well as the correlation between clinical phenotype and genotype. <b>Methods:</b> The clinical data and genetic test results of four children with <i>NBAS</i> gene variants admitted to the Department of Gastroenterology, Children's Hospital Affiliated to Zhejiang University School of Medicine from August 2015 to June 2023 mainly presenting with pediatric acute liver failure (PALF) were retrospectively analyzed. The relevant literature from January 2015 to May 2024 was retrieved using the Chinese and English keywords \"<i>NBAS</i>,\" \"neuroblastoma amplified sequence,\" \"SOPH,\" \"short stature with optic nerve atrophy and Pelger Huët anomaly,\" \"liver failure,\" and \"neuroblastoma amplified sequence\" indexed in the CNKI database, Wanfang Data Knowledge Service Platform, and PubMed database. The clinical features and gene mutation characteristics of domestic patients were summarized. <b>Results:</b> The age at which the initial PALF attack occurred in the four children varied from eight months to three years and seven months. All patients developed PALF within 1-2 days after the onset of fever, with symptoms such as vomiting, convulsions, and mental depression or confusion, accompanied by a sharp increase in transaminases, elevated bilirubin and blood ammonia, hyperlactatemia, and hepatomegaly. The PALF gradually improved, and three pediatric patients showed extrahepatic manifestations following antipyretic, fluid replacement, and other symptomatic supportive treatment. Long-term follow-up showed that active temperature control and symptomatic therapy reduced the recurrence of PALF. Genetic testing identified eight kinds of <i>NBAS</i> gene variants sites. Family testing validated compound heterozygous variants, which included four missense variants, one nonsense variants, and three frameshift mutations. A literature study revealed that out of 51 Chinese patients with <i>NBAS</i> gene variants, 98.0% (50/51) had liver involvement, and 37 cases showed PALF. A total of 61 mutation sites were identified, with c.3596G>A (45.1%, 23/51) as a hotspot variants. <b>Conclusions:</b> PALF caused by <i>NBAS</i> gene variant has obvious clinical and genetic characteristics, and there is a correlation between genotype and clinical phenotype. The c.3596G>A variant site is a hotspot mutation in China and is strongly correlated with the liver failure phenotype.</p>","PeriodicalId":24006,"journal":{"name":"中华肝脏病杂志","volume":"32 ","pages":"170-176"},"PeriodicalIF":0.0,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142740704","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}