中华肝脏病杂志最新文献

{"title":"[HBsAg trajectories and key thresholds toward functional cure of hepatitis B].","authors":"X E Liang, Z H Liu, Y Y Li, R Fan, J L Hou","doi":"10.3760/cma.j.cn501113-20240902-00466","DOIUrl":"10.3760/cma.j.cn501113-20240902-00466","url":null,"abstract":"<p><p>Chronic hepatitis B virus (HBV) infection remains a pivotal global health challenge. The pursuit of a functional cure for hepatitis B remains an ardent and intricate issue in clinical settings, as the current arsenal of nucleos(t)ide analogues (NAs) primarily achieves sustained suppression of HBV DNA but falls short in fully addressing clinical needs. The standalone use of Peg-interferon (PEG-IFN) or its combination with NAs still fails to satisfy the pressing clinical demands for functional cure. However, groundbreaking advancements in hepatitis B treatment have emerged through the research and development of antiviral agents with novel mechanisms, notably small nucleic acid drugs, which have ushered in a new era for functional cure prospects. Leveraging longitudinal data spanning multiple time points of HBsAg levels, we can now delineate the trajectory leading towards HBV functional cure and devise predictive models that refine clinical treatment protocols. Two pivotal thresholds of HBsAg levels emerge as crucial milestones, facilitating the selection of eligible participants for clinical trials. This refinement in screening enhances the personalized management of hepatitis B, tailoring interventions to individual patient needs and maximizing outcomes.</p>","PeriodicalId":24006,"journal":{"name":"中华肝脏病杂志","volume":"32 ","pages":"961-964"},"PeriodicalIF":0.0,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142589529","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 analysis and follow-up results of 25 children with glycogen storage disease].","authors":"W W Liu, M J Wang, M Jin, R Zhang, M R Mi, X M Zhong","doi":"10.3760/cma.j.cn501113-20240609-00288","DOIUrl":"https://doi.org/10.3760/cma.j.cn501113-20240609-00288","url":null,"abstract":"&lt;p&gt;&lt;p&gt;&lt;b&gt;Objective:&lt;/b&gt; To investigate the clinical characteristics, genetic characteristics and follow-up of hepatic glycogen accumulation in order to further improve the prognosis of children with hepatic glycogen accumulation. &lt;b&gt;Methods:&lt;/b&gt; Clinical data of hospitalized children diagnosed with hepatic glycogen accumulation disease in the Department of gastroenterology, Children's Hospital Affiliated to Capital Institute of Pediatrics from January 2010 to April 2023 were collected and retrospectively analyzed. The results of laboratory examination and gene sequencing were analyzed, and the patients with more than 3 cases (n) were grouped according to the genetic results: Group 1 was type Ⅰ (&lt;i&gt;n&lt;/i&gt;=8), group 2 was type Ⅲ (&lt;i&gt;n&lt;/i&gt;=5), and group 3 was type Ⅸ a (&lt;i&gt;n&lt;/i&gt;=8). The growth, development and prognosis of the children were followed up, and the related clinical characteristics of pediatric hepatic glycogen accumulation were summarized. &lt;b&gt;Results:&lt;/b&gt; A total of 25 children with hepatic accumulation of glycogen were included in the study, including 15 males and 10 females. The mean age of diagnosis was (29.1±13.5) months. There were 12 cases (48%) with varying degrees of hypoglycemia, and 2 cases (8%) with severe hypoglycemia. There were 19 cases with height retardation (76%), 4 cases with anemia (16%), 3 cases with proteinuria (12%), and 1 case with cholestasis (4%). The genetic results showed that there were 4 cases of type Ⅰ a (16%), 4 cases of type Ⅰ b (16%), 1 case of type Ⅱ (4%), 5 cases of type Ⅲ (20%), 2 cases of type Ⅳ (8%), 1 case of type Ⅵ (4%), and 8 cases of type Ⅸ (32%). By analyzing the three subgroups, there were statistically significant differences in uric acid and triglyceride (&lt;i&gt;P&lt;/i&gt;&lt;0.05), while there were no statistically significant differences in aminotransferase levels, fasting blood glucose, lactic acid, cholesterol and low density lipoprotein levels (&lt;i&gt;P&lt;/i&gt;&gt;0.05). The height-specific age Z scores of the three groups were compared, which were -2.86±1.62, -1.46±1.06 and -1.83±0.98, respectively. After at least 1 year of follow-up, the growth and development of groups 2 and 3 were significantly improved compared with group 1 (&lt;i&gt;P&lt;/i&gt;&lt;0.05), and the &lt;i&gt;Z&lt;/i&gt; scores were -2.28±1.07, 0.20±1.54 and 0.10±1.44. After more than 1 year of follow-up, all the children with type IX had stopped using raw corn starch and had normal transaminase. 4 patients with type Ia were taking raw corn starch orally regularly. Aminotransferase, uric acid and lactic acid were normal, and hypoglycemia was detected among them.Among the 4 cases of type Ⅰb, 1 case had recurrent respiratory and intestinal infections, and 2 cases had Crohn's disease.4 cases of type Ⅲ had stopped using raw corn starch and adopted high protein and low carbohydrate diet. The aminotransferase was normal except for high creatine kinase. One case of type Ⅵ died of liver failure.2 cases were type Ⅳ, 1 died and 1 had a slightly elevated transaminase level. &lt;b&gt;Con","PeriodicalId":24006,"journal":{"name":"中华肝脏病杂志","volume":"32 ","pages":"1-7"},"PeriodicalIF":0.0,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142606215","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":"[Expert consensus for clinical application of molecular diagnosis on hepatobiliary tumors (2024 edition)].","authors":"","doi":"10.3760/cma.j.cn501113-20240407-00177","DOIUrl":"https://doi.org/10.3760/cma.j.cn501113-20240407-00177","url":null,"abstract":"<p><p>Molecular diagnosis is of enormous significance for the clinical diagnosis and treatment of hepatobiliary tumors. The expert group first released the \"Expert Consensus for Clinical Application of Molecular Diagnosis on Hepatobiliary Tumors\" in 2020. The introduction of this consensus has promoted the standardized application of molecular diagnostic technology in the clinical work of hepatobiliary tumors and improved the diagnosis and treatment capabilities of clinical physicians for hepatobiliary tumors. Research on hepatobiliary tumors has gradually been carried out in recent years, with the continuous publication of new research results. Hence, the expert group updated this consensus on the basis of the latest research progress, the original consensus, with a focus on the detection of molecular markers for targeted and immunotherapy of hepatobiliary tumors, in order to provide a reference for clinical physicians in treatment decisions and maximize the benefits for patients.</p>","PeriodicalId":24006,"journal":{"name":"中华肝脏病杂志","volume":"32 10","pages":"872-882"},"PeriodicalIF":0.0,"publicationDate":"2024-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142629485","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 incidence of low viral load/low-level viremia and its associated factors in patients with HBV-related primary liver cancer].","authors":"K Y Hao, Y Dong, Y Fan, X Jiang, X Xiong, L Gao, Z H Wang, P Li, Y C Yu","doi":"10.3760/cma.j.cn501113-20230829-00076","DOIUrl":"https://doi.org/10.3760/cma.j.cn501113-20230829-00076","url":null,"abstract":"&lt;p&gt;&lt;p&gt;&lt;b&gt;Objective:&lt;/b&gt; To retrospectively analyze the viral levels and associated factors in patients with hepatitis B virus (HBV)-related primary liver cancer (PHC) in real-world settings and further explore the correlation between low viral load (LVL) and/or low-level viremia (LLV) and PHC. &lt;b&gt;Methods:&lt;/b&gt; Five hundred twenty-four cases with HBV-related PHC with complete pathologically confirmed data from 2013 to 2020 were included. Percentages (%) were used to express their viral load, antiviral (oral) status, patient compliance, presence or absence of cirrhosis, family history of liver cancer, and others. LVL definition: After excluding detection errors by PCR method, serum HBV DNA &lt;50-2 000 IU/ml, and those who had received antiviral drug treatment were called LLV. Antiviral treatment (AVT) rate definition: As of the confirmed diagnosis of PHC, those who had been regularly treated using oral antiviral drugs for six months or more (≥6 months). &lt;b&gt;Results:&lt;/b&gt; General situation: The ratio of male to female enrolled patients was 15.90:1 (493/31). Patients aged &gt;40 years accounted for 91.98% (482 cases). Hepatitis B surface antigen (HBsAg) positivity condition: The ratio of HBsAg-positive to HBsAg-negative/anti-HBc-positive (HBsAg-/anti-HBc+) PHC patients was 5.89:1 (448/76). Among the 76 HBsAg-/anti-HBc+patients, the ratio of HBsAg-/anti-HBs+/anti-HBc+ to HBsAg-/anti-HBs-/anti-HBc+ patients was 0.95:1 (37/39). Hepatitis B e antigen (HBeA) positivity condition: The ratio of HBeAg-negative to HBeAg-positive cases was 3.23:1 (400/124). HBV DNA level condition: The medical history records of 75.00% of patients (393/524) had traceable HBV DNA test reports. Out of 393 patients, 45.04% (177/393) accounted for undetectable HBV DNA, 13.49% (53/393) accounted for LVL, 41.48% (163/393) accounted for HBV DNA exceeding the upper limit of LVL, and 4.07% (16/393) accounted for LLV. Among HBsAg-positive and HBsAg-/anti-HBc+ patients, the HBV DNA positivity rates were 59.12% (214/362) and 6.45% (2/31), respectively. Antiviral treatment condition: Among the 448 HBsAg-positive PHC patients, the total AVT rate was 18.08% (81/448), of which seven patients did not have their HBV DNA results traced back. Among them, the AVT rate of 148 patients with HBV DNA lower than the lowest detection value was 41.22% (61/148); the AVT rate of 53 patients with LVL was 18.87% (10/53); and the AVT rate of 163 patients with HBV DNA≥LVL upper limit was 1.84% (3/163). Liver cirrhosis and family history condition: 348 patients (66.41%) had liver cirrhosis. 67 patients (12.79%) had a distinct family history of HBV-related liver cirrhosis and liver cancer. Alpha-fetoprotein (AFP) condition: 514 patients underwent AFP testing, with 30.93% of the patients had normal AFP levels, and 69.07% had AFP levels exceeding the upper limit of normal values (355/514). Among them, 10 μg/L&lt;AFP&lt;400 μg/L and&gt;400 μg/L accounted for 34.44% (177/514) and 34.63% (178/514), respectively. Tissue typing conditi","PeriodicalId":24006,"journal":{"name":"中华肝脏病杂志","volume":"32 10","pages":"910-915"},"PeriodicalIF":0.0,"publicationDate":"2024-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142629402","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":"[Safety profile of tenofovir amibufenamide therapy extension or switching in patients with chronic hepatitis B: a phase Ⅲ multicenter, randomized controlled trial].","authors":"Z H Liu, Q L Jin, Y X Zhang, G Z Gong, G C Wu, L F Yao, X F Wen, Z L Gao, Y Huang, D K Yang, E Q Chen, Q Mao, S D Lin, J Shang, H Y Gong, L H Zhong, H F Yin, F M Wang, P Hu, X Q Zhang, Q J Gao, P Xia, C Li, J Q Niu, J L Hou","doi":"10.3760/cma.j.cn501113-20240807-00366","DOIUrl":"10.3760/cma.j.cn501113-20240807-00366","url":null,"abstract":"<p><p><b>Objective:</b> In chronic hepatitis B (CHB) patients with previous 96-week treatment with tenofovir amibufenamide (TMF) or tenofovir disoproxil fumarate (TDF), we investigated the safety profile of sequential TMF treatment from 96 to 144 weeks. <b>Methods:</b> Enrolled subjects that previously assigned (2:1) to receive either 25 mg TMF or 300 mg TDF with matching placebo for 96 weeks received extending or switching TMF treatment for 48 weeks. Safety profiles of kidney, bone, metabolism, body weight, and others were evaluated. <b>Results:</b> 666 subjects from the initial TMF group and 336 subjects from TDF group with at least one dose of assigned treatment were included at week 144. The overall safety profile was favorable in each group and generally similar between extended or switched TMF treatments from week 96 to 144. In subjects switching from TDF to TMF, the non-indexed estimated glomerular filtration rate (by non-indexed CKD-EPI formula) and creatinine clearance (by Cockcroft-Gault formula) were both increased, which were (2.31±8.33) ml/min and (4.24±13.94) ml/min, respectively. These changes were also higher than those in subjects with extending TMF treatment [(0.91±8.06) ml/min and (1.30±13.94) ml/min]. Meanwhile, switching to TMF also led to an increase of the bone mineral density (BMD) by 0.75% in hip and 1.41% in spine. On the other side, a slight change in TC/HDL ratio by 0.16 (IQR: 0.00, 0.43) and an increase in body mass index (BMI) by (0.54±0.98) kg/m² were oberved with patients switched to TMF, which were significantly higher than that in TMF group. <b>Conclusion:</b> CHB patients receiving 144 weeks of TMF treatment showed favorable safety profile. After switching to TMF, the bone and renal safety was significantly improved in TDF group, though experienceing change in metabolic parameters and weight gain (NCT03903796).</p>","PeriodicalId":24006,"journal":{"name":"中华肝脏病杂志","volume":"32 10","pages":"893-903"},"PeriodicalIF":0.0,"publicationDate":"2024-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142629488","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 characteristics and prognosis analysis of patients with IgG4-related hepatobiliary-pancreatic disease].","authors":"Y W Du, C Y Jiang, Q Miao, X Xiao, Q X Wang, J Hua, M Lian, X Ma","doi":"10.3760/cma.j.cn501113-20230828-00073","DOIUrl":"https://doi.org/10.3760/cma.j.cn501113-20230828-00073","url":null,"abstract":"<p><p><b>Objective:</b> To explore and analyze the clinical features of patients with immunoglobulin (Ig)G4-related hepatobiliary-pancreatic disease and the independent factors affecting the prognosis of IgG4-related sclerosing cholangitis (IgG4-SC). <b>Methods:</b> The clinical data of 179 adult cases diagnosed with IgG4-related hepato-pancreato-biliary disease in the Division of Gastroenterology and Hepatology, Renji Hospital, Shanghai Jiao Tong University School of Medicine from January 2011 to December 2022 were retrospectively analyzed. Patients were divided into three groups: isolated IgG4-SC, IgG4-SC/type 1 autoimmune pancreatitis(type 1 AIP), and isolated AIP according to the clinical manifestations. Demographic characteristics, baseline biochemical immunological indexes, and imaging manifestations were analyzed. The treatment response rate and survival rate were compared. The COX proportional hazards model was used to analyze the independent factors related to prognosis. <b>Results:</b> The mean age of diagnosis of patients with IgG4-related hepatobiliary-pancreatic disease was 60.3±12.0 years. Males accounted for 74.9%, and the median follow-up time was 38 months. The 1-year clinical response rate of patients with isolated IgG4-SC was lower than that of IgG4-SC/AIP (67.9% vs. 91.7%, <i>P</i>=0.019), and the primary endpoint-free 5-year survival rate was significantly reduced (64.9% vs. 95.9%, <i>P</i><0.001). COX regression analysis showed that having cirrhosis before treatment (<i>HR</i>=6.708, <i>P</i>=0.004) and poor response after half a year of treatment (<i>HR</i>=11.488, <i>P</i>=0.002) were independent risk factors associated with the occurrence of adverse events in hepatobiliary diseases among patients with IgG4-SC. <b>Conclusions:</b> The clinical response rate and survival rate of patients with isolated IgG4-SC are lower than those of patients with IgG4-SC/AIP. Patients with IgG4-SC who do not respond well at six months of treatment and who have progressed to cirrhosis before treatment are at significantly increased risk of adverse events.</p>","PeriodicalId":24006,"journal":{"name":"中华肝脏病杂志","volume":"32 10","pages":"916-922"},"PeriodicalIF":0.0,"publicationDate":"2024-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142629405","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":"[Concise guidelines for the clinical management of thrombocytopenia in cirrhosis].","authors":"","doi":"10.3760/cma.j.cn501113-20240806-00361","DOIUrl":"https://doi.org/10.3760/cma.j.cn501113-20240806-00361","url":null,"abstract":"<p><p>Thrombocytopenia in cirrhosis is causing puzzlement in clinical practice. Therefore, in order to help clinical practitioners grasp quickly and standardize the diagnosis and treatment of thrombocytopenia in cirrhosis, liver fibrosis, and portal hypertension, the Group of the Chinese Society of Hepatology of the Chinese Medical Association has organized relevant field experts to formulate the \"Concise Guidelines for Clinical Management of Thrombocytopenia in Cirrhosis\" with aim of providing guidance for the clinical diagnosis and treatment.</p>","PeriodicalId":24006,"journal":{"name":"中华肝脏病杂志","volume":"32 10","pages":"865-871"},"PeriodicalIF":0.0,"publicationDate":"2024-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142629478","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":"[Efficacy evaluation of extending or switching to tenofovir amibufenamide in patients with chronic hepatitis B: a phase Ⅲ randomized controlled study].","authors":"Z H Liu, Q L Jin, Y X Zhang, G Z Gong, G C Wu, L F Yao, X F Wen, Z L Gao, Y Huang, D K Yang, E Q Chen, Q Mao, S D Lin, J Shang, H Y Gong, L H Zhong, H F Yin, F M Wang, P Hu, X Q Zhang, Q J Gao, C N Jin, C Li, J Q Niu, J L Hou","doi":"10.3760/cma.j.cn501113-20240807-00365","DOIUrl":"https://doi.org/10.3760/cma.j.cn501113-20240807-00365","url":null,"abstract":"<p><p><b>Objective:</b> In chronic hepatitis B (CHB) patients with previous 96-week treatment with tenofovir amibufenamide (TMF) or tenofovir disoproxil fumarate (TDF), we investigated the efficacy of sequential TMF treatment from 96 to 144 weeks. <b>Methods:</b> Enrolled subjects who were previously assigned (2:1) to receive either 25 mg TMF or 300 mg TDF with matching placebo for 96 weeks received extended or switched TMF treatment for 48 weeks. Efficacy was evaluated based on virological, serological, biological parameters, and fibrosis staging. Statistical analysis was performed using the McNemar test, <i>t</i>-test, or Log-Rank test according to the data. <b>Results:</b> 593 subjects from the initial TMF group and 287 subjects from the TDF group were included at week 144, with the proportions of HBV DNA<20 IU/ml at week 144 being 86.2% and 83.3%, respectively, and 78.1% and 73.8% in patients with baseline HBV DNA levels ≥8 log10 IU/ml. Resistance to tenofovir was not detected in both groups. For HBeAg loss and seroconversion rates, both groups showed a further increase from week 96 to 144 and the 3-year cumulative rates of HBeAg loss were about 35% in each group. However, HBsAg levels were less affected during 96 to 144 weeks. For patients switched from TDF to TMF, a substantial further increase in the alanine aminotransferase (ALT) normalization rate was observed (11.4%), along with improved FIB-4 scores. <b>Conclusion:</b> After 144 weeks of TMF treatment, CHB patients achieved high rates of virological, serological, and biochemical responses, as well as improved liver fibrosis outcomes. Also, switching to TMF resulted in significant benefits in ALT normalization rates (NCT03903796).</p>","PeriodicalId":24006,"journal":{"name":"中华肝脏病杂志","volume":"32 10","pages":"883-892"},"PeriodicalIF":0.0,"publicationDate":"2024-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142629484","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 of antiviral treatment for patients with chronic hepatitis B combined with metabolic fatty liver disease].","authors":"Y Chen, W K Gao, J Ye, L Yang","doi":"10.3760/cma.j.cn501113-20231228-00305","DOIUrl":"https://doi.org/10.3760/cma.j.cn501113-20231228-00305","url":null,"abstract":"<p><p>Chronic hepatitis B (CHB) mainly causes cirrhosis and hepatocellular carcinoma (HCC). Metabolic fatty liver disease (MAFLD) has become the most common chronic liver disease worldwide with the continuous changes in lifestyle and dietary patterns and the increase in the number of obese individuals. Consequently, the incidence rate of CHB combined with MAFLD is rapidly increasing. However, the pathogenesis, treatment, and clinical prognosis remain unclear due to the interaction between CHB and MAFLD. Notably, in the academic community, there are still controversies as to whether patients with CHB and MAFLD should immediately start antiviral treatment, whether MAFLD affects the antiviral efficacy in CHB patients, and whether nucleos(t)ide analogues (NAs) affect the body's metabolism. This article reviews the epidemiology, clinical prognosis, treatment management strategies (especially the antiviral efficacy of NAs drugs), and NAs drug effects on the body's metabolism in patients with CHB combined with MAFLD so as to provide diagnostic and therapeutic concept for clinicians.</p>","PeriodicalId":24006,"journal":{"name":"中华肝脏病杂志","volume":"32 10","pages":"955-960"},"PeriodicalIF":0.0,"publicationDate":"2024-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142629486","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 and genetic analysis of autosomal dominant polycystic liver disease].","authors":"L S Su, N Liu, X D Kong","doi":"10.3760/cma.j.cn501113-20230825-00069","DOIUrl":"10.3760/cma.j.cn501113-20230825-00069","url":null,"abstract":"<p><p><b>Objective:</b> To analyze and clarify the clinical and pathogenic gene variation and genetic etiology of polycystic liver disease. <b>Methods:</b> The proband clinical data and family history were collected. Whole-exome sequencing technology was used to detect the proband gene variations. Fluorescence quantitative PCR validation was performed on the proband and his family to screen out pathogenic gene variation. <b>Results:</b> A multiple liver cyst was found in an 18-year-old male proband during a physical examination. There were no abnormalities in his liver function, and both his father and grandfather had multiple liver cysts without any obvious discomfort or other special manifestations. Whole exome sequencing suggested a heterozygous deletion in exon 1 (Exon 1) of the SEC63 gene in the proband. Real-time fluorescence quantitative PCR confirmed that the heterozygous deletion variation of the SEC63 gene Exon 1 of the proband came from his father, and the same heterozygous deletion was detected in his grandfather. The gene variant had a pathogenic variation that had been rarely reported before and was in accordance with the the American college of Medical Genetics and Genomics (ACMG) guidelines. <b>Conclusions:</b> The genetic etiology of this autosomal dominant polycystic liver disease has been clarified, and the heterozygous deletion of Exon1 of the SEC63 gene is a newly discovered gene variation that broadens the variation spectrum of the SEC63 gene.</p>","PeriodicalId":24006,"journal":{"name":"中华肝脏病杂志","volume":"32 10","pages":"935-939"},"PeriodicalIF":0.0,"publicationDate":"2024-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142629403","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}