中华肝脏病杂志Pub Date : 2024-09-20DOI: 10.3760/cma.j.cn501113-20240712-00323
Y Z Song, M Deng, L Guo, W X Lin
{"title":"[Full-cycle, multidisciplinary and systematic management of citrin deficiency].","authors":"Y Z Song, M Deng, L Guo, W X Lin","doi":"10.3760/cma.j.cn501113-20240712-00323","DOIUrl":"https://doi.org/10.3760/cma.j.cn501113-20240712-00323","url":null,"abstract":"<p><p>Professor Takeyori Saheki's team at Kagoshima University, Japan, published a paper in Nature Genetics in June 1999, pinpointing the pathogenic gene for adult-onset type Ⅱ citrullinemia as <i>SLC25A13</i> and naming the protein product encoded by this gene as citrin. Over the past 25 years, the researches have made positive progress on the pathophysiological mechanism, clinical phenotype, molecular diagnosis, treatment, and prognosis of citrin deficiency (CD) as an autosomal recessive genetic disease. Currently, three age-dependent clinical phenotypes of CD have been found, namely neonatal intrahepatic cholestasis caused by citrin deficiency, failure to thrive and dyslipidemia caused by citrin deficiency, and adult-onset type Ⅱ citrullinemia. Although relevant internal medicine drugs are being researched and developed while liver transplantation has been used for the treatment of CD patients, scientific dietary therapy remains the foundation, core, and key for the management of this disease. Furthermore, CD management involves the full life cycle of patients, requiring the joint efforts of basic and clinical medicine as well as systematic articulation at multi-levels, such as the parents, family, and society. By full-cycle, multidisciplinary, and systematic management, it is an achievable goal for CD patients to learn, work, and live in a healthy manner.</p>","PeriodicalId":24006,"journal":{"name":"中华肝脏病杂志","volume":"32 9","pages":"777-782"},"PeriodicalIF":0.0,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142393824","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}
中华肝脏病杂志Pub Date : 2024-09-20DOI: 10.3760/cma.j.cn501113-20230905-00091
Q Z Li, C Fan, X S Zhao, Q J Liu, D Qin, P Wang, L Zhu
{"title":"[Analysis of the etiology and clinical indicators of infantile cholestasis].","authors":"Q Z Li, C Fan, X S Zhao, Q J Liu, D Qin, P Wang, L Zhu","doi":"10.3760/cma.j.cn501113-20230905-00091","DOIUrl":"https://doi.org/10.3760/cma.j.cn501113-20230905-00091","url":null,"abstract":"<p><p><b>Objective:</b> To explore the disease spectrum and corresponding clinical indicators of infantile cholestasis so as to provide a basis for the diagnosis of this type of disease at an early stage. <b>Methods:</b> The clinical data was collected from 203 hospitalized children diagnosed with infantile cholestasis at the Department of Gastroenterology of Maternal and Child Health Care, Guiyang City, from January 2018 to March 2023, including 130 males and 73 females. Patients general condition, personal history, and blood biochemical test indicators, including liver and coagulation function, blood ammonia, blood lipid profile, blood sugar, TORCH, thyroid function, and others, were retrospectively analyzed after admission. Cholangiography and high-throughput gene sequencing were performed in certain patients. The etiology of the enrolled cases were analyzed. Children's clinical data were compared with distinct inherited metabolic liver diseases (Group A) and biliary atresia (Group B). The statistical analysis was conducted using the t-test, Mann-Whitney test, Kruskal-Wallis test, or <i>χ</i><sup>2</sup> test, according to different data. <b>Results:</b> In 33 cases, infectious factors-primarily CMV infection-were the etiology of cholestasis. Forty cases had aberrant bile duct development, primarily biliary atresia, choledochal cysts, and intrahepatic bile duct dysplasia. In 26 cases, genetic metabolic factors mainly included citrin protein deficiency, sodium-taurocholate co-transporting polypeptide deficiency, and Alagille syndrome. 11 cases had drug/poisoning factors (parenteral nutrition-associated cholestasis). 19 cases had idiopathic infantile cholestasis. Three cases had other factors; however, all of them had Kawasaki disease. 71 cases had an unclear diagnosis. There was no statistically significant difference in terms of gender and age between groups A and B (<i>P</i>>0.05). The alkaline phosphatase (ALP) and bile acid levels were significantly higher in Group A than Group B, with a <i>P</i><0.05, while the gamma glutamyltransferase (GGT), direct bilirubin (DBil), and albumin levels were lower than those in Group B, with a <i>P</i><0.05. The cytomegalovirus infection rate was higher in Group B (62.50%) than Group A (34.62%), and the difference between the two groups was statistically significant (<i>χ</i><sup>2</sup>=3.89, <i>P</i><0.05). The alanine aminotransferase, aspartate aminotransferase, GGT, DBil, and albumin were significantly lower in patients with citrin protein deficiency than those in patients with biliary atresia, while ALP, bile acid, and blood ammonia were higher than those in patients with biliary atresia. Patients with sodium-taurocholate co-transporting polypeptide deficiency had higher bile acid than patients with biliary atresia, while the DBil was lower than that in patients with biliary atresia, and the difference was statistically significant (<i>P</i><0.05). <b>Conclusion:</b> Infantile cholestasis etiology is","PeriodicalId":24006,"journal":{"name":"中华肝脏病杂志","volume":"32 9","pages":"813-819"},"PeriodicalIF":0.0,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142393785","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}
中华肝脏病杂志Pub Date : 2024-09-20DOI: 10.3760/cma.j.cn501113-20240427-00232
Z L Zhou, D Z Zhang
{"title":"[Research progress on albumin therapy for hepatic encephalopathy].","authors":"Z L Zhou, D Z Zhang","doi":"10.3760/cma.j.cn501113-20240427-00232","DOIUrl":"https://doi.org/10.3760/cma.j.cn501113-20240427-00232","url":null,"abstract":"<p><p>Hepatic encephalopathy (HE) is one of the severe complications of decompensated stage cirrhosis that causes cerebral dysfunction due to hepatic insufficiency and/or portosystemic shunts, and it usually manifests as a wide spectrum of neurological or psychiatric abnormalities ranging from subclinical alterations to coma. The pathogenesis of HE is complex, although ammonia toxicity, oxidative stress, inflammation, intestinal dysbiosis, and others among them mainly play an important role. The treatment for HE lacks specific drugs, and the current available drugs include non-absorbable disaccharides (lactulose), antibiotics (rifaximin), and other therapies (oral branched-chain amino acids, intravenous injection of L-ornithine-L-aspartic acid, probiotics). Recent research has shown that human albumin is a safe and effective treatment for HE, improving not only cognitive function but also enhancing patients' quality of life.</p>","PeriodicalId":24006,"journal":{"name":"中华肝脏病杂志","volume":"32 9","pages":"861-864"},"PeriodicalIF":0.0,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142393828","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}
中华肝脏病杂志Pub Date : 2024-09-20DOI: 10.3760/cma.j.cn501113-20240826-00393
J D Jia
{"title":"[Reappraisal on the clinical diagnosis and treatment of hereditary liver diseases].","authors":"J D Jia","doi":"10.3760/cma.j.cn501113-20240826-00393","DOIUrl":"10.3760/cma.j.cn501113-20240826-00393","url":null,"abstract":"<p><p>Hereditary liver diseases are rare conditions characterized by a wide variety of types and very low incidence rate for each one. Their clinical manifestations are diverse, and diagnosis often requires specialized testing, posing a high likelihood of missed or misdiagnosis. Systemic learning the basic knowledge and classification of hereditary liver diseases, as well as an understanding of the clinical features, laboratory findings, imaging, and pathological features of the relatively common hereditary liver diseases in adults, such as Wilson's disease, hemochromatosis, and alpha-1 antitrypsin deficiency, is essential. Targeted genetic testing can aid in the timely identification and correct diagnosis of these diseases. Once the etiology is revealed, appropriate treatment can often improve the clinical outcomes and quality of life. Cell therapy and gene therapy represent future directions and may offer the chance of cure for certain conditions. Currently, for patients who have progressed to end-stage liver disease, liver transplantation remains the ultimate treatment option and mostly yield excellent long-term prognosis if the indication and timing are appropriate.</p>","PeriodicalId":24006,"journal":{"name":"中华肝脏病杂志","volume":"32 9","pages":"769-771"},"PeriodicalIF":0.0,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142393827","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}
中华肝脏病杂志Pub Date : 2024-09-20DOI: 10.3760/cma.j.cn501113-20240320-00146
X X Li, G W Cheng, X H Qiao, L Y Xue, C Huang, X J Huang, Q Y Yao, H Ding
{"title":"[Clinical value of multiparameteric quantitative ultrasound for assessing high-risk steatohepatitis].","authors":"X X Li, G W Cheng, X H Qiao, L Y Xue, C Huang, X J Huang, Q Y Yao, H Ding","doi":"10.3760/cma.j.cn501113-20240320-00146","DOIUrl":"https://doi.org/10.3760/cma.j.cn501113-20240320-00146","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the clinical value of multiparameteric quantitative ultrasound combined with a non-invasive prediction model for assessing high-risk steatohepatitis. <b>Methods:</b> One hundred and ninety-four cases with metabolic-associated fatty liver disease (MAFLD) who underwent liver biopsy in Huashan Hospital, Fudan University, from June 2021 to September 2022 were selected. Shear wave elastography (SWE), shear wave dispersion (SWD) imaging, and attenuation imaging (ATI) examinations were conducted in all patients before biopsy. High-risk steatohepatitis was defined as a total activity score of ≥4 in patients with steatohepatitis, hepatocellular ballooning, and liver lobular inflammation based on pathological hepatic steatosis, inflammatory activity, and fibrosis scoring system (SAF), and fibrosis stage≥F2. Binary logistic regression analysis was used to identify the factors influencing high-risk steatohepatitis. A predictive model for diagnosing high-risk steatohepatitis was constructed using R language. The DeLong test was used to compare the area under the curve between groups. Measurement data was compared between groups using the t-test or rank-sum test, and count data were compared between groups using the <i>χ</i><sup>2</sup> test. <b>Results:</b> There were 46 cases (23.7%) with high-risk steatohepatitis. The quantitative ultrasound parameters included elastic modulus (<i>OR</i>=2.958, 95%<i>CI</i>: 1.889-4.883, <i>P</i><0.001), dispersion coefficient (<i>OR</i>=1.786, 95%<i>CI</i>: 1.424-2.292, <i>P</i><0.001) and attenuation coefficient (<i>OR</i>=42.642, 95%<i>CI</i>: 3.463-640.451, <i>P</i>=0.004). Serological indexes of fasting blood glucose (<i>OR</i>=1.196, 95%<i>CI</i>: 1.048-1.392, <i>P</i>=0.011), alanine aminotransferase (<i>OR</i>=1.012, 95%<i>CI</i>: 1.006-1.019, <i>P</i><0.001), aspartate aminotransferase (<i>OR</i>=1.027, 95%<i>CI</i>: 1.014-1.042, <i>P</i><0.001), γ-glutamyl transferase (<i>OR</i>=1.008, 95%<i>CI</i>: 1.001-1.017, <i>P</i>=0.041) and HDL cholesterol (<i>OR</i>=0.087, 95%<i>CI</i>: 0.016-0.404, <i>P</i>=0.003) were the factors influencing its progression. The AUCs of elastic modulus, dispersion coefficient, attenuation coefficient, multiparametric ultrasound model, serological index model, and ultrasound combined with serology model for the diagnosis of high-risk steatohepatitis were 0.764, 0.758, 0.634, 0.786, 0.773 and 0.825, respectively. The results of the DeLong test showed that the ultrasound combined with the serological model was significantly better than the serological index model and the elastic modulus, dispersion coefficient, and attenuation coefficient alone (<i>P</i>=0.024, 0.027, 0.038 and <0.001). <b>Conclusion:</b> The combination of multiparametric quantitative ultrasound is helpful for the non-invasive diagnosis of high-risk steatohepatitis and possesses great clinical significance.</p>","PeriodicalId":24006,"journal":{"name":"中华肝脏病杂志","volume":"32 9","pages":"820-827"},"PeriodicalIF":0.0,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142393823","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}
中华肝脏病杂志Pub Date : 2024-09-20DOI: 10.3760/cma.j.cn501113-20240731-00354
T Liu, J S Wang
{"title":"[Progress in the treatment of progressive familial intrahepatic cholestasis].","authors":"T Liu, J S Wang","doi":"10.3760/cma.j.cn501113-20240731-00354","DOIUrl":"10.3760/cma.j.cn501113-20240731-00354","url":null,"abstract":"<p><p>Progressive familial intrahepatic cholestasis (PFIC) is an important cause of liver-related death or transplantation in children. The PFIC spectrum is expanding, twelve types of PFIC are currently included in the Online Mendelian Inheritance in Man (OMIM) database. With the increase of PFIC types and the inconsistence of certain types in numbering, the current numbering classification of PFIC is confusing, so the experts in the field recommend using the corresponding mutant gene/ protein defect to name different type of PFIC except for PFIC type 1-3. The clarification of the genotype-phenotype relationship and/or the establishment of phenotypic predictors significantly improved the management of patients with PFIC. Odevixibat and maralixibat, inhibitors of the apical sodium ion-dependent bile acid transporter on the intestinal epithelial cells, were approved in European Union and the United States for the treatment of PFIC pruritus in 2021, expanding the treatment options for PFIC. Additionally, personalized treatments for specific mutations and novel gene therapy is promising.</p>","PeriodicalId":24006,"journal":{"name":"中华肝脏病杂志","volume":"32 9","pages":"772-776"},"PeriodicalIF":0.0,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142393826","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}
中华肝脏病杂志Pub Date : 2024-09-20DOI: 10.3760/cma.j.cn501113-20240630-00309
{"title":"[Chinese guidelines on the management of hepatic encephalopathy in cirrhosis (2024)].","authors":"","doi":"10.3760/cma.j.cn501113-20240630-00309","DOIUrl":"https://doi.org/10.3760/cma.j.cn501113-20240630-00309","url":null,"abstract":"<p><p>With the progress of basic and clinical research on hepatic encephalopathy in cirrhosis over the world, Chinese Society of Hepatology of the Chinese Medical Association has invited experts in relevant fields to revise the 2018 \"Chinese Guidelines on the Management of Hepatic Encephalopathy in Cirrhosis\". New guideline provides the recommendations for clinical diagnosis, treatment, primary and secondary prevention of hepatic encephalopathy in cirrhosis.</p>","PeriodicalId":24006,"journal":{"name":"中华肝脏病杂志","volume":"32 9","pages":"799-812"},"PeriodicalIF":0.0,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142393788","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}
中华肝脏病杂志Pub Date : 2024-09-20DOI: 10.3760/cma.j.cn501113-20231130-00254
X F Zhao, Q Wang, J Sun, A M Zhang, X Y Chang, W G Li, X Z Duan
{"title":"[A mechanistic study of radiotherapy on intratumoral NK cell infiltration augmentation by regulating the EZH2/CXCL10 pathway in hepatocellular carcinoma cells].","authors":"X F Zhao, Q Wang, J Sun, A M Zhang, X Y Chang, W G Li, X Z Duan","doi":"10.3760/cma.j.cn501113-20231130-00254","DOIUrl":"https://doi.org/10.3760/cma.j.cn501113-20231130-00254","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the effect and associated mechanism of tumor tissue-infiltrating NK cells after receiving radiotherapy for hepatocellular carcinoma (HCC). <b>Methods:</b> A HCC tumor-bearing mouse model was constructed using human hepatocellular carcinoma cell line (SK-Hep-1) and divided into four groups: control, radiotherapy, NK cell clearance, and NK clearance combined with radiotherapy. Tumor growth condition was simultaneously recorded. The NK cell ratio in peripheral blood and the NK cell intratumoral infiltration condition were detected by flow cytometry and immunohistochemistry. Lentiviral-constructed SK-Hep-1 cells was used to detect the effect of radiotherapy on the regulation of CXCL10 and NK cell chemotaxis following EZH2 overexpression. SK-Hep-1 cells were irradiated <i>in vitro</i> and <i>in vivo</i>. The expression levels of EZH2 and CXCL10 mRNA and protein in the two groups of cell lines and mouse tumor tissues were detected by reverse transcription polymerase chain reaction (RT-PCR), enzyme-linked immunosorbent assay (ELISA), western blotting (WB), and immunohistochemistry. The chemotaxis and blocking experiments were used to validate the chemotaxis effect of CXCL10 on NK cells. The independent sample t-test was used to compare the groups. <i>P</i><0.05 was considered statistically significant. <b>Results:</b> The HCC tumor-bearing mouse model experiment showed that HCC tumor growth was most remarkable in the NK clearance combined with the radiotherapy group compared to the radiotherapy group (<i>P</i><0.05). Compared with the control group, the number of NK cells in the peripheral blood of nude mice in the radiotherapy group was significantly reduced, while the NK cell intratumoral infiltration was significantly increased (<i>P</i><0.05). Flow cytometry and immunohistochemistry showed <i>in</i> <i>vitro</i> and <i>in</i> <i>vivo</i> expressional alterations. The average expression levels of EZH2 mRNA and protein in hepatocellular carcinoma cell lines and tumor tissues were decreased in the radiotherapy group than the control group and mouse tumor tissues (<i>P</i><0.05), while the mRNA and protein expression levels of CXCL10 increased (<i>P</i><0.05). The cell supernatant following radiotherapy enhanced NK cell chemotaxis but inhibited CXCL10 neutralization. EZH2 overexpression validated that radiotherapy up-regulated CXCL10 mRNA and down-regulated protein expression levels in in vitro and in vivo experiments (<i>P</i><0.05). The chemotactic effect on NK cells was significantly weakened with EZH2 overexpression following radiotherapy. <b>Conclusion:</b> NK cells, as immune effector cells, are directly involved in radiotherapy- activated anti-HCC immunity. Importantly, radiotherapy inhibits EZH2 expression in hepatocellular carcinoma, thereby upregulating CXCL10 expression and enhancing intratumoral NK cell invasion.</p>","PeriodicalId":24006,"journal":{"name":"中华肝脏病杂志","volume":"32 9","pages":"835-844"},"PeriodicalIF":0.0,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142393783","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}
中华肝脏病杂志Pub Date : 2024-09-20DOI: 10.3760/cma.j.cn501113-20231014-00143
B Y Wu, Z Z Ren, Y Liu, X W Yang, Y W Zhang
{"title":"[A case of giant hilar cholangiocarcinoma accompanied by hyperbilirubinemia achieved disease stabilization via hepatic artery infusion chemotherapy combined with targeted therapy].","authors":"B Y Wu, Z Z Ren, Y Liu, X W Yang, Y W Zhang","doi":"10.3760/cma.j.cn501113-20231014-00143","DOIUrl":"10.3760/cma.j.cn501113-20231014-00143","url":null,"abstract":"","PeriodicalId":24006,"journal":{"name":"中华肝脏病杂志","volume":"32 9","pages":"845-849"},"PeriodicalIF":0.0,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142393782","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}
中华肝脏病杂志Pub Date : 2024-09-20DOI: 10.3760/cma.j.cn501113-20240712-00319
{"title":"[Chinese guidelines for the diagnosis and treatment of hereditary hemochromatosis].","authors":"","doi":"10.3760/cma.j.cn501113-20240712-00319","DOIUrl":"https://doi.org/10.3760/cma.j.cn501113-20240712-00319","url":null,"abstract":"<p><p>Hereditary hemochromatosis is an iron overload disease caused by mutations in iron-regulating genes, resulting in excessive iron deposition in organs such as the liver, heart, skin, pancreas, and gonads, leading to corresponding multi-system damage. This condition is relatively common in European and American populations, primarily caused by mutations in the HFE gene; however, it is rare in China and other Asian countries, almost exclusively due to mutations in non-HFE genes. Clinical features include unexplained chronic hepatitis or cirrhosis, accompanied by elevated serum ferritin and/or increased transferrin saturation. MRI shows iron deposition in the liver, liver biopsy reveals iron accumulation in hepatocytes, and genetic testing facilitate the diagnosis of this disease. Repeated phlebotomy is the first-line therapy for this condition. For those who cannot tolerate phlebotomy, iron chelation therapy may be used, and patients who progress to end-stage liver disease will require liver transplantation. To assist clinicians in making informed decisions on the diagnosis and treatment of hereditary hemochromatosis, the Chinese Society of Hepatology, Chinese Medical Association has invited experts from clinical medicine, molecular genetics, pathology, imaging, and methodology to systematically summarize the advancement in this field and collaboratively develop the current guidelines.</p>","PeriodicalId":24006,"journal":{"name":"中华肝脏病杂志","volume":"32 9","pages":"787-798"},"PeriodicalIF":0.0,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142393787","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}