中华肝脏病杂志最新文献

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[Analysis of clinical and genetic characteristics of the severe liver disease phenotype in patients with hepatolenticular degeneration]. [肝细胞变性患者严重肝病表型的临床和遗传特征分析]。
中华肝脏病杂志 Pub Date : 2024-06-20 DOI: 10.3760/cma.j.cn501113-20230926-00122
Q Q Xiao, Y H Xu, X Xu, Y W Shi, H X Cao, X Q Liu, J G Fan
{"title":"[Analysis of clinical and genetic characteristics of the severe liver disease phenotype in patients with hepatolenticular degeneration].","authors":"Q Q Xiao, Y H Xu, X Xu, Y W Shi, H X Cao, X Q Liu, J G Fan","doi":"10.3760/cma.j.cn501113-20230926-00122","DOIUrl":"https://doi.org/10.3760/cma.j.cn501113-20230926-00122","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the clinical and genetic characteristics and predictive role of the severe liver disease phenotype in patients with hepatolenticular degeneration (HLD). <b>Methods:</b> Inpatients with HLD confirmed at Xinhua Hospital affiliated with Shanghai Jiao Tong University School of Medicine from January 1989 to December 2022 were selected as the research subjects. Clinical classification was performed according to the affected organs. Patients with liver disease phenotypes were classified into the liver disease group and further divided into the severe liver disease group and the ordinary liver disease group. The clinical characteristics and genetic variations were compared in each group of patients. The predictive indicators of patients with severe liver disease were analyzed by multiple regression. Statistical analysis was performed using the <i>t</i>-test, Mann-Whitney <i>U</i> test, or <i>χ</i>(2) test according to different data. <b>Results:</b> Of the 159 HLD cases, 142 were in the liver disease group (34 in the severe liver disease group and 108 in the ordinary liver disease group), and 17 were in the encephalopathy group. The median age of onset was statistically significantly different between the liver disease group and the encephalopathy group [12.6 (7.0, 13.3) years versus 16.9 (11.0, 21.5) years, <i>P</i><0.01]. 156 <i>ATP7B</i> gene mutation sites were found in 83 cases with genetic testing results, of which 54 cases carried the p.Arg778Leu gene mutation (allele frequency 46.2%). Compared with patients with other types of gene mutations (<i>n</i>=65), patients with homozygous p.Arg778Leu mutations (<i>n</i>=18) had lower blood ceruloplasmin and albumin levels, a higher prognostic index, Child-Pugh score, an international normalized ratio, and prothrombin time (<i>P</i><0.05). Hemolytic anemia, corneal K-F ring, homozygous p.Arg778Leu mutation, and multiple laboratory indexes in the severe liver disease group were statistically significantly different from those in the ordinary liver disease group (<i>P</i><0.05). Multivariate logistic regression analysis showed that the predictive factors for severe liver disease were homozygous p.Arg778Leu mutation, total bilirubin, and bile acids (<i>ORs</i>=16.512, 1.022, 1.021, 95% <i>CI</i>: 1.204-226.425, 1.005-1.039, and 1.006-1.037, respectively, <i>P</i><0.05). The drawn ROC curve demonstrated a cutoff value of 0.215 3, an AUC of 0.953 2, and sensitivity and specificity of 90.91% and 92.42%, respectively. <b>Conclusion:</b> Liver disease phenotypes are common in HLD patients and have an early onset. Total bilirubin, bile acids, and the homozygous p.Arg778Leu mutation of <i>ATP7B</i> is related to the severity of liver disease in HLD patients, which aids in predicting the occurrence and risk of severe liver disease.</p>","PeriodicalId":24006,"journal":{"name":"中华肝脏病杂志","volume":"32 6","pages":"551-557"},"PeriodicalIF":0.0,"publicationDate":"2024-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141535523","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}
引用次数: 0
[Endoscopic ultrasound-guided liver biopsy: current status and prospects]. [内窥镜超声引导下的肝脏活组织检查:现状与前景]。
中华肝脏病杂志 Pub Date : 2024-06-20 DOI: 10.3760/cma.j.cn501113-20240319-00143
J Z Li, X B Cai, L G Lu
{"title":"[Endoscopic ultrasound-guided liver biopsy: current status and prospects].","authors":"J Z Li, X B Cai, L G Lu","doi":"10.3760/cma.j.cn501113-20240319-00143","DOIUrl":"https://doi.org/10.3760/cma.j.cn501113-20240319-00143","url":null,"abstract":"<p><p>Liver biopsy is an important means of clinical diagnosis and treatment of liver diseases, but it is not easily accepted by patients because of its invasiveness. The most commonly employed liver biopsy approaches are percutaneous or transjugular. Endoscopic ultrasound-guided liver biopsy (EUS-LB), a newly emerging transjugular technique, has been widely studied and applied in recent years, but its application in China is less common. The EUS-LB has the advantages of high safety and comfort, simultaneous sampling of both liver lobes, and adequate sampling volume; however, it also has the disadvantages of high requirements for hardware, operators, and cost. This article reviews the clinical application of EUS-LB in accordance with pertinent research findings from recent years and discusses its advantages, disadvantages, and implementation feasibility.</p>","PeriodicalId":24006,"journal":{"name":"中华肝脏病杂志","volume":"32 6","pages":"572-576"},"PeriodicalIF":0.0,"publicationDate":"2024-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141535528","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}
引用次数: 0
[Accelerating the elimination of hepatitis B virus infection: expert recommendations for expanding prevention and treatment]. [加快消除乙型肝炎病毒感染:扩大预防和治疗的专家建议]。
中华肝脏病杂志 Pub Date : 2024-06-20 DOI: 10.3760/cma.j.cn501113-20240407-00175
{"title":"[Accelerating the elimination of hepatitis B virus infection: expert recommendations for expanding prevention and treatment].","authors":"","doi":"10.3760/cma.j.cn501113-20240407-00175","DOIUrl":"https://doi.org/10.3760/cma.j.cn501113-20240407-00175","url":null,"abstract":"<p><p>In order to achieve the early goal of \"eliminating viral hepatitis as a public health threat by 2030\" as proposed by the World Health Organization, the relevant issues that have not yet reached consensus on the aspects of hepatitis B prevention and treatment, including population-wide screening, adult hepatitis B vaccination, the evaluation of quantitative values of hepatitis B virus DNA, the alanine aminotransferase threshold for initiating antiviral therapy, the treatment of patients in the \"indeterminate phase,\" the treatment of patients with co-infections and comorbidities, and others. Thus, experts have formulated recommendations to further expand hepatitis B prevention and treatment, with the aim of accelerating the elimination of hepatitis B virus infection.</p>","PeriodicalId":24006,"journal":{"name":"中华肝脏病杂志","volume":"32 6","pages":"497-503"},"PeriodicalIF":0.0,"publicationDate":"2024-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141535483","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}
引用次数: 0
[Correlation between hepatitis B virus infection and adverse pregnancy outcomes-a systematic review and meta-analysis]. [乙型肝炎病毒感染与不良妊娠结局之间的相关性--系统回顾与荟萃分析]。
中华肝脏病杂志 Pub Date : 2024-06-20 DOI: 10.3760/cma.j.cn501113-20240204-00080
W Q Cai, K Y Mao, P Y Jiang, Y Zhou, F L Chen, D Li
{"title":"[Correlation between hepatitis B virus infection and adverse pregnancy outcomes-a systematic review and meta-analysis].","authors":"W Q Cai, K Y Mao, P Y Jiang, Y Zhou, F L Chen, D Li","doi":"10.3760/cma.j.cn501113-20240204-00080","DOIUrl":"10.3760/cma.j.cn501113-20240204-00080","url":null,"abstract":"<p><p><b>Objective:</b> To systematically evaluate the effect of hepatitis B virus (HBV) infection on the risk of adverse pregnancy outcomes. <b>Methods:</b> We searched PubMed, Embase, Web of Science, and Cochrane databases. Two researchers independently screened the literature, extracted data, and evaluated the quality. Meta-analysis and cumulative meta-analysis were performed using R4.4.1 software. Fixed/random effects models were used to analyze heterogeneous and non-heterogeneous results. Heterogeneous modifiers were identified by subgroup analysis. Funnel plots and Peters' test were used to analyze potential publication bias. <b>Results:</b> A total of 48 studies involving 92 836 HBsAg-positive pregnant women and 7 123 292 HBsAg-negative pregnant women were included. In terms of adverse pregnancy outcomes, HBV infection was significantly correlated with the occurrence of gestational diabetes mellitus [odds ratio (<i>OR</i>)=1.34, 95% confidence interval (<i>CI</i>): 1.17-1.53] and intrahepatic cholestasis (<i>OR</i>=2.48, 95%<i>CI</i>: 1.88-3.29), with statistically significant differences. In terms of adverse neonatal outcomes, HBV infection was significantly correlated with the occurrence of neonatal asphyxia (<i>OR</i>=1.49, 95%<i>CI</i>: 1.20-1.86) and preterm birth (<i>OR</i>=1.22, 95%<i>CI</i>: 1.12-1.33), with statistically significant differences. In addition, the cumulative meta-analysis demonstrated that the risk of gestational diabetes mellitus and preterm birth both tended to be stable in pregnant women with HBV infection following 2009 and 2010, respectively. The supplementary questions answered for repeated studies had limited significance. <b>Conclusion:</b> Intrahepatic cholestasis, gestational diabetes mellitus, neonatal asphyxia, and preterm birth occurrence risk can be raised with HBV infection in pregnant women.</p>","PeriodicalId":24006,"journal":{"name":"中华肝脏病杂志","volume":"32 6","pages":"532-544"},"PeriodicalIF":0.0,"publicationDate":"2024-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141535527","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}
引用次数: 0
[Systemic therapeutic strategies for hepatocellular carcinoma: current status and prospects]. [肝细胞癌的系统治疗策略:现状与前景]。
中华肝脏病杂志 Pub Date : 2024-06-20 DOI: 10.3760/cma.j.cn501113-20240412-00200
Z G Yuan, S L Ye
{"title":"[Systemic therapeutic strategies for hepatocellular carcinoma: current status and prospects].","authors":"Z G Yuan, S L Ye","doi":"10.3760/cma.j.cn501113-20240412-00200","DOIUrl":"10.3760/cma.j.cn501113-20240412-00200","url":null,"abstract":"<p><p>Hepatocellular carcinoma (HCC) is a common type of poorly prognosticated malignant tumor. Surgical resection is the preferred treatment method for early-stage HCC. However, at the time of the initial diagnosis, fewer than 30% of patients with liver cancer are suitable for radical therapy. Systemic therapy plays an important role in the treatment process of patients with intermediate- to advanced-stage HCC, as it can effectively extend patients' survival time. With an emphasis on the status and role of systemic therapy for comprehensive management of HCC, this article summarizes the latest progress at home and abroad in the past five years, including first-line combined immunotherapy for advanced-stage HCC, second-line therapy selection, perioperative systemic therapy application, and combined therapy of systemic and local. Currently, the treatment model combined with local therapy has already become a new research hotspot in the treatment of advanced-stage HCC. Nevertheless, in the future, individualized and precise systemic therapeutic strategies will need further exploration.</p>","PeriodicalId":24006,"journal":{"name":"中华肝脏病杂志","volume":"32 6","pages":"565-571"},"PeriodicalIF":0.0,"publicationDate":"2024-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141535486","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}
引用次数: 0
[Is it appropriate for the "Guidelines for the Prevention and Treatment of Chronic Hepatitis B (version 2022)" to require HBeAg-negative chronic HBV-infected patients to be HBV DNA-negative?] [慢性乙型肝炎防治指南(2022 年版)》要求 HBeAg 阴性的慢性 HBV 感染者 HBV DNA 阴性是否合适?]
中华肝脏病杂志 Pub Date : 2024-06-20 DOI: 10.3760/cma.j.cn501113-20240130-00065
M Liu, T X Zhao, J W Geng
{"title":"[Is it appropriate for the \"Guidelines for the Prevention and Treatment of Chronic Hepatitis B (version 2022)\" to require HBeAg-negative chronic HBV-infected patients to be HBV DNA-negative?]","authors":"M Liu, T X Zhao, J W Geng","doi":"10.3760/cma.j.cn501113-20240130-00065","DOIUrl":"https://doi.org/10.3760/cma.j.cn501113-20240130-00065","url":null,"abstract":"","PeriodicalId":24006,"journal":{"name":"中华肝脏病杂志","volume":"32 6","pages":"563-564"},"PeriodicalIF":0.0,"publicationDate":"2024-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141535531","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}
引用次数: 0
[MRI manifestations of 40 cases with the hepatic epithelioid hemangioendothelioma classification based on the morphology and size]. [根据形态和大小对 40 例肝上皮样血管内皮瘤进行分类的 MRI 表现]。
中华肝脏病杂志 Pub Date : 2024-06-20 DOI: 10.3760/cma.j.cn501113-20230910-00100
Q Lu, L L Chen, M S Zeng, M L Wang
{"title":"[MRI manifestations of 40 cases with the hepatic epithelioid hemangioendothelioma classification based on the morphology and size].","authors":"Q Lu, L L Chen, M S Zeng, M L Wang","doi":"10.3760/cma.j.cn501113-20230910-00100","DOIUrl":"https://doi.org/10.3760/cma.j.cn501113-20230910-00100","url":null,"abstract":"<p><p><b>Objective:</b> To explore the MRI characteristics of the hepatic epithelioid hemangioendothelioma (HEHE) classification according to morphology and size. <b>Methods:</b> The clinical, pathological, and MRI imaging data of 40 cases with HEHE confirmed pathologically from December 2009 to September 2021 were retrospectively analyzed. A paired sample <i>t</i>-test was used for comparison between the two groups. <b>Results:</b> There were 40 cases (5 solitary, 24 multifocal, 9 local fusion, and 2 diffuse fusion) and 214 lesions (163 nodules, 31 masses, and 20 fusion foci). The most common features of lesions were subcapsular growth and capsular depression. The signal intensity of lesions ≤1cm was usually uniform with whole or ring enhancement. Nodules and mass-like lesions ≥1cm on a T1-weighted image had slightly reduced signal intensity or manifested as a halo sign. Target signs on a T2-weighted image were characterized by: target or centripetal enhancement; fusion-type lesions; irregular growth and hepatic capsular retraction, with ring or target-like enhancement in the early stage of fusion and patchy irregular enhancement in the late stage; blood vessels traversing or accompanied by malformed blood vessels; focal bleeding; an increasing proportion of extrahepatic metastases and abnormal liver function with the type of classified manifestation; primarily portal vein branches traversing; and reduced overall intralesional bleeding rate (17%). Lollipop signs were presented in 19 cases, with a high expression rate in mass-type lesions (42%). The fusion lesions were expressed, but the morphological manifestation was atypical. The diffusion-weighted imaging mostly showed high signal or target-like high signal. An average apparent diffusion coefficient of lesions was (1.56±0.36) ×10(-3)mm(2)/s, which was statistically significantly different compared with that of adjacent normal liver parenchyma (<i>t</i>=8.28, <i>P</i><0.001). <b>Conclusion:</b> The MRI manifestations for the HEHE classification are closely related to the morphology and size of the lesions and have certain differences and characteristics that are helpful for the diagnosis of the disease when combined with clinical and laboratory examinations.</p>","PeriodicalId":24006,"journal":{"name":"中华肝脏病杂志","volume":"32 6","pages":"545-550"},"PeriodicalIF":0.0,"publicationDate":"2024-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141535532","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}
引用次数: 0
[An analysis of related factors in thrombocytopenia combined with cirrhosis: a cross-sectional study of 2 517 cases]. [血小板减少合并肝硬化的相关因素分析:对 2 517 例病例的横断面研究]。
中华肝脏病杂志 Pub Date : 2024-06-20 DOI: 10.3760/cma.j.cn501113-20240408-00183
M He, Y N Fan, Z Q Ba, T T Ji, D M Zhang, Y Y Yu, X Y Xu, J H Xu
{"title":"[An analysis of related factors in thrombocytopenia combined with cirrhosis: a cross-sectional study of 2 517 cases].","authors":"M He, Y N Fan, Z Q Ba, T T Ji, D M Zhang, Y Y Yu, X Y Xu, J H Xu","doi":"10.3760/cma.j.cn501113-20240408-00183","DOIUrl":"https://doi.org/10.3760/cma.j.cn501113-20240408-00183","url":null,"abstract":"<p><p><b>Objective:</b> To explore the related factors of thrombocytopenia (TCP) occurrence in patients with cirrhosis. <b>Methods:</b> A cross-sectional study was conducted. Inpatients with an initial diagnosis of cirrhosis at Peking University First Hospital from January 1, 2010 to December 31, 2020 were included. Clinical data such as demographic characteristics, etiology of cirrhosis, complications of cirrhosis, laboratory indicators, Child-Pugh grade, invasive procedures, and mortality during hospitalization were collected. A logistic regression model was used to explore the related factors of TCP occurrence in patients with cirrhosis. Categorical variables were compared by the <i>χ</i>(2) test. The inter-group comparison was performed using continuous variables, a <i>t</i>-test, one-way analysis of variance (ANOVA), or a nonparametric test. <b>Results:</b> There were a total of 2 592 cases of cirrhosis. 75 cases with incomplete clinical data were excluded. 2 517 cases were included for analysis. The median age was 58 (50, 67) years. Males accounted for 64%. 1 435 cases (57.0%) developed TCP, and 434 cases (17.2%) had grade 3-4 TCP. Gender, primary biliary cholangitis (PBC), primary sclerosing cholangitis (PSC), and concomitant esophagogastric varices (EGV) were the major factors associated with TCP. Females were more prone to combine with TCP (<i>OR</i>=1.32, 95%<i>CI</i>: 1.12-1.56, <i>P</i>=0.001). Patients combined with EGV (<i>OR</i>=3.09, 95%<i>CI</i>: 2.63-3.65, <i>P</i><0.001) were more prone to develop TCP, which was associated with the increased incidence of hypersplenism (<i>P</i><0.001). Patients with PBC (<i>OR</i>=0.64, 95%<i>CI</i>: 0.50-0.82, <i>P</i><0.001) and PSC (<i>OR</i>=0.23, 95%<i>CI</i>: 0.06-0.65, <i>P</i>=0.010) were less prone to develop TCP, which was due to the shorter prothrombin time and better coagulation function of PBC patients (<i>P</i><0.001), and the lower proportion of hypersplenism in combined PSC patients (<i>P</i>=0.004). Patients with TCP and grade 3-4 TCP had a higher rate of hemostatic procedures (<i>P</i><0.05), but a lower rate of liver biopsy (<i>P</i><0.05). Patients with grade 3-4 TCP had a higher nosocomial mortality rate compared to those without (<i>P</i>=0.004). <b>Conclusion:</b> TCP is common in patients with cirrhosis. However, TCP occurrence is higher in female patients with EGV and lower in patients combined with PBC and PSC. TCP affects invasive procedures and is associated with adverse outcomes.</p>","PeriodicalId":24006,"journal":{"name":"中华肝脏病杂志","volume":"32 6","pages":"508-516"},"PeriodicalIF":0.0,"publicationDate":"2024-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141535522","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}
引用次数: 0
[Genotype-phenotype relationship and genetics study of 115 cases with Wilson's disease]. [115例威尔逊氏病患者的基因型-表型关系和遗传学研究]。
中华肝脏病杂志 Pub Date : 2024-06-20 DOI: 10.3760/cma.j.cn501113-20240416-00208
J K Xia, H F Ning, X Luo, Y Zeng, Y B Chen, X D Kong
{"title":"[Genotype-phenotype relationship and genetics study of 115 cases with Wilson's disease].","authors":"J K Xia, H F Ning, X Luo, Y Zeng, Y B Chen, X D Kong","doi":"10.3760/cma.j.cn501113-20240416-00208","DOIUrl":"https://doi.org/10.3760/cma.j.cn501113-20240416-00208","url":null,"abstract":"<p><p><b>Objective:</b> To explore the genotype-phenotype relationship of Wilson's disease (WD) and further study the mutation spectrum in the ATP7B gene. <b>Methods:</b> The clinical data and genetic test results of 115 cases with WD diagnosed in the First Affiliated Hospital of Zhengzhou University from 2015 to 2022 were retrospectively analyzed. The rank sum test was used for quantitative data comparison, and <i>χ</i>(2) test was used for count data comparison. Multivariate logistic regression was used to analyze the relationship between patients' genotype and phenotype. <b>Results:</b> The onset of liver manifestations (hepatic type) accounted for 60.9%, neurological symptoms (cerebral type) for 13.0%, and mixed hepato-cerebral symptoms for 26.1%. Presymptomatic individuals (hepatic types) accounted for 62.9%. Next-generation sequencing- diagnosed WD cases accounted for 87.8%. Combined multiplex ligation-dependent probe amplification assay-diagnosed WD cases accounted for 89.6%. A single case with a detected pathogenic locus accounted for 10.4%. The diagnostic rate of WD by genetic testing combined with clinical data was 100%. A total of 76 ATP7B mutations were detected, and the top three mutation frequencies were c.2333G>T (p.Arg778Leu) (30.7%), c.2975C>T (p.Pro992Leu) (7.3%), and c.2621C>T (p.Ala874Val) (6.4%). The mutations were mainly distributed in exons 8, 11-13, and 15-18, accounting for more than 90% of the total mutations. Eight new mutations were found, including c.3724G>A (p.Glu1242Lys), c.3703G>C (p.Gly1235Arg), c.3593T>C (p.Val1198Ala), c.2494A>C (p.Lys832Gln), c.1517T>A (p.Ile506Lys), c.484G>T (p.Glu162Ter), c.1870-49A>G, and the missing of exons 10-21. Liver histopathology showed cellular edema, degeneration, inflammation, and necrosis, as well as a 42.8% copper staining positive rate. Genotype-phenotype analysis showed that the p.Arg778Leu mutation had higher alanine aminotransferase (ALT) levels than those carrying other mutations (<i>P</i>=0.024), while the homozygous mutation of p.Arg778Leu was associated with cerebral-type patients (<i>P</i>=0.027). <b>Conclusion:</b> Genetic testing plays an important role in the diagnosis of WD. p.Arg778Leu is the first high-frequency mutation in the Chinese population, and patients carrying it have higher ALT levels. The p.Arg778Leu homozygous mutation is prone to causing cerebral-type WD. This study expands the ATP7B gene mutation spectrum.</p>","PeriodicalId":24006,"journal":{"name":"中华肝脏病杂志","volume":"32 6","pages":"558-562"},"PeriodicalIF":0.0,"publicationDate":"2024-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141535529","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}
引用次数: 0
[Pay attention to the diagnosis and treatment of "easily neglected" complications in liver cirrhosis]. [关注肝硬化 "易忽视 "并发症的诊断和治疗】。]
中华肝脏病杂志 Pub Date : 2024-06-20 DOI: 10.3760/cma.j.cn501113-20240409-00184
J H Xu, Y Y Yu, X Y Xu
{"title":"[Pay attention to the diagnosis and treatment of \"easily neglected\" complications in liver cirrhosis].","authors":"J H Xu, Y Y Yu, X Y Xu","doi":"10.3760/cma.j.cn501113-20240409-00184","DOIUrl":"https://doi.org/10.3760/cma.j.cn501113-20240409-00184","url":null,"abstract":"<p><p>Managing cirrhosis complications is an important measure for improving patients' clinical outcomes. Therefore, in order to provide a complete disease assessment and comprehensive treatment, improve quality of life, and improve the prognosis for patients with cirrhosis, it is necessary to pay attention to complications such as thrombocytopenia and portal vein thrombosis in addition to common or severe complications such as ascites, esophagogastric variceal bleeding, hepatic encephalopathy, and hepatorenal syndrome. The relevant concept that an effective albumin concentration is more helpful in predicting the cirrhosis outcome is gradually being accepted; however, the detection method still needs further standardization and commercialization.</p>","PeriodicalId":24006,"journal":{"name":"中华肝脏病杂志","volume":"32 6","pages":"481-483"},"PeriodicalIF":0.0,"publicationDate":"2024-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141535484","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}
引用次数: 0
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