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wilson disease:Histopathological correlations with treatment on follow-up liver biopsies

World Journal of Gastroenterology 2010年第12期16卷 1487-1494页

作者： Sandy Cope-Yokoyama Milton J Finegold Giacomo Carlo Sturniolo Kyoungmi Kim Claudia Mescoli Massimo Rugge Valentina Medici Department of Pathology University of Texas Southwestern Medical Center and Children's Medical Center Department of Pathology Baylor College of Medicine and Texas Children's Hospital Department of Surgical and Gastroenterological Sciences University of Padua Division of Biostatistics Department of Public Health ScienceUniversity of California DavisOne Shields Avenue Davis Department of Diagnostic Medical Sciences and Special Therapies Pathology UnitUniversity of Padua Division of Gastroenterology and Hepatology Department of Internal MedicineUniversity of California Davis Medical Center

AIM:To investigate the progression of hepatic histopathology in serial liver biopsies from wilson disease(WD)***:We report a group of 12 WD patients treated with zinc and/or penicillamine who underwent multiple follow-up liver ***,clinical and laboratory data were gathered and all patients underwent an initial biopsy and at least one repeat ***:Time to repeat biopsy ranged from 2 to 12 *** patients(non-progressors)showed stable hepatic histology or *** one case,we observed improvement of fibrosis from stage 2 to *** patients(progressors)had worsening of *** was no significant correlation between the histological findings and serum aminotransferases or copper me-tabolism *** hepatic copper concentration reached normal levels in only two patients:one from the non-progressors and one from the progressors *** estimated rate of progression of hepatic fibrosis in the entire group was 0 units per year in the time frame between the first and the second liver biopsy(4 years),and 0.25 between the second and the third(3 years).In the progressors group,the rate of progression of liver fibrosis was estimated at 0.11 fibrosis units per year between the first and second biopsy and,0.6 fibrosis units between the second and third ***:The inability of clinical tools to detect fibrosis progression in WD suggests that a liver biopsy with hepatic copper quantification every 3 years should be considered.

关键词： wilson disease Copper Liver biopsy Histopathology

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wilson disease: Identification of two novel mutations and clinical correlation in Eastern Chinese patients

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World Journal of Gastroenterology 2007年第38期13卷 5147-5150页

作者： Sheng Ye Liang Gong Quan-Xiang Shui Lin-Fu Zhou Department of Pediatrics Child Hospital Zhejiang University Hangzhou 310005 Zhejiang Province China The First Affiliated Hospital School of Medicine Zhejiang University Hangzhou 310005 Zhejiang Province China Institute of Medical Biotechnology Zhejiang University Hangzhou 310005 Zhejiang Province China

AIM: To study mutations in the P-type ATPase (ATP7B) gene responsible for wilson disease (WD) in the Eastern Chinese population, and the possible correlation of specific mutations with clinical characteristics. METHODS: Mutations of the ATP7B gene were sought by means of direct sequencing in 50 Eastern Chinese WD patients of Han ethnic origin. RESULTS: Two novel mutations, Asp96Gly and Asp196Glu, were first identified. We also compared the characterization of mutations in ATP7B with the clinical findings, and a significant correlation with hepatic manifestations between patients carrying the Arg778Leu mutation and those without was found. CONCLUSION: Gene sequencing analysis was shown to have a high detection rate and accuracy. It may become the first priority in screening of WD patients.

关键词： wilson disease ATP7B gene Mutations Polymorphisms

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wilson's disease in two siblings from Ecuador:Two case reports

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World Journal of Clinical Cases 2025年第3期13卷 50-60页

作者： Enrique Carrera Jonathan Alvarado Martina Astudillo Galo Pillajo Department of Gastroenterology and Hepatology Hospital de Especialidades Eugenio EspejoQuito 170136PichinchaEcuador Faculty of Medicine Pontificia Universidad Catolica del EcuadorQuito 170143PichinchaEcuador Department of Radiology Hospital de Especialidades Eugenio EspejoQuito 170136PichinchaEcuador

BACKGROUND wilson's disease(WD)is a rare metabolic disorder of copper accumulation in organs such as liver,brain,and *** and treatments are challenging in settings,where advanced diagnostic tests are unavailable,copper chelating agents are frequently scarce,healthcare professionals lack disease awareness,and medical follow-ups are *** diagnoses and treatments help prevent complications,improve patients’quality of life,and ensure a normal life *** clinical presentations and outcomes of WD can vary within a single *** SUMMARY We present the cases of two siblings(19 and 27 years)from a consanguineous family in rural Ecuador,diagnosed as having WD during a family *** male patient,diagnosed at age 19 after his brother’s death from acute liver failure,presented with compensated cirrhosis,neurological symptoms,and bilateral Kayser-Fleischer *** developed progressive neurological deterioration during an irregular treatment with D-penicillamine due to medication *** condition improved upon switching to trientine tetrahydrochloride,and his neurological symptoms improved over an 8-year period of *** female patient,diagnosed at age 10,exhibited only biochemical *** treatment history was similar;however,she remained asymptomatic without disease progression over the same follow-up *** discuss the potential influence of epigenetic mechanisms and modifier genes on the various phenotypes,emphasizing the need for research in these areas to optimize therapeutic *** Our patients’medical histories show how early diagnosis and treatment can prevent disease progression;and,how suboptimal treatments impact disease outcomes.

关键词： wilson disease Kayser-Fleischer rings Copper chelator D-penicillamine Trientine tetrahydrochloride Case report

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wilson disease-the impact of hyperimmunity on disease activity:A case report

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World Journal of Clinical Cases 2021年第6期9卷 1386-1393页

作者： Wolfgang Stremmel Thomas Longerich RenéLiere Vladimir Vacata Josef van Helden Ralf Weiskirchen Pracice for Gastroenterology Medical Center Baden-BadenBaden-Baden D-76530Germany Department of General Pathology University Heidelberg HospitalInstitute of PathologyUniversity of HeidelbergHeidelberg D-69115Germany MVZ Dr.Stein+Kollegen Labor MönchengladbachMönchengladbach D-41069Germany Institute of Molecular Pathobiochemistry Experimental Gene Therapy and Clinical ChemistryRheinisch-Westfaelische Technische Hochschule University Hospital AachenAachen D-52074Germany

BACKGROUND In wilson disease lack of biliary copper excretion causes hepatocellular injury by accumulation of free toxic *** overspill to serum accounts for neuronal damage as second common *** with copper chelators or zinc targets the removal of this free ***,in some patients liver disease persists for unknown reason despite normalized free *** discovery of a hyperimmunity as a contributing pathogenetic factor was discovered in this case report with implication also for other liver *** SUMMARY A 9-year-old girl was diagnosed in August 2009 by family screening of having asymptomatic wilson disease with elevated *** at time of diagnosis antinuclear antibodies(ANA)were elevated without hyperimmunoglobulinemia(immunoglobulin G,IgG).After one year of therapy with Dpenicillamine transaminases normalized together with free serum *** continuous therapy with copper chelators free copper remained normal until today,whereas transaminases raised to alanine aminotransferase values of 571 U/L in December *** hyperimmunity a tentative steroid course on top of Dpenicillamine improved ***,hyperimmunity may have impact on liver inflammation after control of the metabolic disturbance.A retrospective cohort study confirmed the common association of elevated transaminases with ANA,but no IgG *** This hyperimmune-triggered condition may represent a new entity which per se or on top of other liver diseases induces liver inflammation responsive to steroids.

关键词： wilson disease Copper metabolism Antinuclear antibodies Diagnosis Steroid therapy Case report

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wilson disease:At the crossroads between genetics and epigeneticsdA review of the evidence

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Liver Research 2017年第2期1卷 121-130页

作者： Dorothy A.Kieffer Valentina Medici Department of Internal Medicine Division of Gastroenterology and HepatologyUniversity of CaliforniaDavisCAUSA

Environmental factors,including diet,exercise,stress,and toxins,profoundly impact disease *** review examines how wilson disease(WD),an autosomal recessive genetic disorder,is influenced by genetic and environmental *** is caused by mutations in the copper-transporter gene ATP7B,leading to the accumulation of copper in the liver and brain,resulting in hepatic,neurological,and psychiatric *** symptoms range in severity and can first appear anytime between early childhood and old *** 300 disease-causing mutations in ATP7B have been identified,but attempts to link genotype to the phenotypic presentation have yielded little insight,prompting investigators to identify alternative mechanisms,such as epigenetics,to explain the highly varied clinical ***,WD is accompanied by structural and functional abnormalities in mitochondria,potentially altering the production of metabolites that are required for epigenetic regulation of gene ***,environmental exposure affects the regulation of gene expression and mitochondrial *** present the“multi-hit”hypothesis of WD progression,which posits that the initial hit is an environmental factor that affects fetal gene expression and epigenetic mechanisms and subsequent“hits”are environmental exposures that occur in the offspring after *** environmental hits and subsequent changes in epigenetic regulation may impact copper accumulation and ultimately WD *** changes,including diet,increased physical activity,stress reduction,and toxin avoidance,might influence the presentation and course of WD,and therefore may serve as potential adjunctive or replacement therapies.

关键词： wilson disease Modifier gene Epigenetics Mitochondria

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Impact of COVID-19 on the clinical status of patients with wilson disease

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World Journal of Gastroenterology 2021年第26期27卷 4248-4251页

作者： Yu-Pei Zhuang Hao-Jie Zhong Department of Gastroenterology The First Affiliated Hospital of Guangdong Pharmaceutical UniversityGuangzhou 510080Guangdong ProvinceChina School of Biology and Biological Engineering South China University of TechnologyGuangzhou 510000Guangdong ProvinceChina Institute of Microbiology Guangdong Academy of SciencesGuangzhou 510000Guangdong ProvinceChina

The coronavirus disease 2019(COVID-19)pandemic has greatly impacted health *** guidelines on chronic liver diseases have been released to optimize the use of medical resources and patient ***,most of these guidelines have been established through expert consensus because the existing data do not provide strong evidence for developing effective *** wilson disease(WD)is a rare chronic liver disease,the impact of COVID-19 on the clinical status of patients with WD is *** present study showed a marked shortage of medical resources for clinically managing patients with WD during the *** patients with WD who consistently took anticopper therapy showed no significant differences in hepatic and extrahepatic markers before and after the pandemic,their complication incidences,especially the infection incidence,were significantly increased during the study ***,patients with WD should be encouraged to adhere to anticopper therapy and be closely monitored to prevent infections and other *** present study provides a clinical basis for further managing WD during the pandemic.

关键词： Coronavirus disease 2019 wilson disease Clinical status Complications Infections Anticopper therapy

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Diagnostic criteria for acute liver failure due to wilson disease

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World Journal of Gastroenterology 2007年第11期13卷 1711-1714页

作者： Christoph Eisenbach Olivia Sieg Wolfgang Stremmel Jens Encke Uta Merle University Hospital of Heidelberg Department of Gastroenterology and Hepatology Im Neuenheimer Feld 410 Heidelberg D-69120 Germany

AIM： To describe the diagnostic criteria for acute liver failure due to wilson disease （WD）, which is an uncommon cause of acute liver failure （ALF）. METHODS： We compared findings of patients presenting with ALF due to WD to those with ALF of other etiologies. RESULTS： Previously described criteria, such as low alkaline phosphatase activity, ratio of low alkaline phosphatase to total bilirubin or ratio of high aspartate arninotransferase （AST） to alanine arninotransferase （ALT）, failed to identify patients with ALF due to WD. There were significant differences in low ALT and AST activities （53 ± 43 vs 1982 ± 938, P 〈 0.0001 and 87 ± 44 vs 2756 ± 2941, P = 0.037, respectively）, low choline esterase activity （1.79 ± 1.2 vs 4.30 ± 1.2, P = 0.009）, high urine copper concentrations （93.4 ± 144.0 vs 3.5 ± 1.8, P = 0.001） and low hemoglobin （7.0 ± 2.2 vs 12.6 ± 1.8, P 〈 0.0001） in patients with ALF caused by WD as compared with other etiologies. Interestingly, 4 of 7 patients with ALF due to WD survived without liver transplantation. CONCLUSION： In ALF, these criteria can help establish a diagnosis of WD. Where applicable, slitlamp examination for presence of Kayser-Fleischer rings and liver biopsy for determination of hepatic copper concentration still remain important for the diagnosis of ALF due to WD. The need for liver transplantation should be evaluated carefully as the prognosis is not necessarily fatal.

关键词： Acute liver failure Copper metabolism Fulminant hepatic failure wilson disease Liver transplantation

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Copper toxicosis gene MURRl is not changed in wilson disease patients with normal blood ceruloplasmin levels

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World Journal of Gastroenterology 2006年第14期12卷 2239-2242页

作者： Karl Heinz Weiss Uta Merle Mark Schaefer Peter Ferenci Joachim Fullekrug Wolfgang Stremmel Department of Gastroenterology University of Heidelberg Germany Department of Gastroenterology and Hepatology Medical University of Vienna Austria

AIM： To analyze our wilson disease patient cohort （n = 106） for alterations in the gene coding for MURR1. METHODS： Patients with an established diagnosis of wilson disease but normal ceruloplasmin blood levels were chosen for our study （n = 14）. Patients with two known disease-causing mutations in the ATPTB gene were not included. The three exons of the human MURR1 gene were sequenced after amplification of the genomic DNA by polymerase chain reaction. RESULTS： Our study did not reveal any mutations leading to an amino acid change in the MURR1 sequence of wilson disease patients. A polymorphism at 472 bp of the coding sequence could be confirmed. CONCLUSION： The MURRI gene plays no role in the pathogenesis of wilson disease patients with normal serum ceruloplasmin levels.

关键词： wilson disease ATPTB MURR1 COMMD1

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Diminution of toxic copper accumulation in toxic milk mice modeling wilson disease by embryonic hepatocyte intrasplenic transplantation

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World Journal of Gastroenterology 2005年第24期11卷 3691-3695页

作者： ZhuShi Xiu-LingLiang Bing-XunLu Su-YuePan XiChen Qi-QiangTang YingWang FanHuang DepartmentofNeurology NanfangHospital1^stMilitaryMedicalUniversityGuangzhou510515GuangdongProvinceChina DepartmentofNeurology 1^stAffiliatedHospitalSunYatSenUniversityGuangzhou510080GuangdongProvinceChina

AIM: To observe the therapeutic effect of intrasplenic transplantation with embryonic hepatocytes on amelioration of hereditary copper accumulation in toxic milk (TX) mouse modeling wilson disease. METHODS: Donor hepatocytes were harvested from 14-d fetal liver of a pregnant homogeneous DL mouse. These cells were successively cultured, labeled with fluorescein dye Hoechst 33342 for 24 h, and sequentially infused into the spleen parenchyma of the recipient TX mice. No host immunosuppression measures were taken. Two and four weeks after transplantation, the recipients were killed for routine histologic investigation and immunohistochemistry study up to 4 wk after transplantation. The serum copper and ceruloplasmin concentrations of the recipient mice were determined by graphite furnace atomic absorption ***: In the following 2nd and 4th wk after transplantation, the donor hepatocytes could be visualized in the livers of 47.3% recipients. The serum ceruloplasmin and copper concentrations increased by 1.6-fold after 2 wk and 2.0-fold times after 4 wk respectively, which ultimately rose from about 30% of the normal level to nearly 60%(P＜0.01). The hepatic copper concentration decreased 7.2%, 4 wk after transplantation. Pathologic examination showed that there were many actively proliferative hepatocyte precursor cells with specific embryonic hepatocyte marker AFP migrated into hepatic sinusoidsof the recipients. A large number of cells carrying hepatocytes marker and albumin were observed in the recipient spleen ***: Embryonic hepatocytes are capable of differentiating into mature hepatocytes in vivo. After transplantation, the hereditary abnormalities of copper metabolism in TX mice could be corrected partially by intrasplenic transplantation of homogeneous embryonic hepatocytes.

关键词： Transplantation wilson disease Copper Ceruloplasmin

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Hepatitis B virus infection in patients with wilson disease:A large retrospective study

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World Journal of Gastroenterology 2023年第32期29卷 4900-4911页

作者： Hua-Ying Zhou Xu Yang Kai-Zhong Luo Yong-Fang Jiang Wen-Long Wang Jun Liang Ming-Ming Li Hong-Yu Luo Department of Infectious diseases Institute of HepatologyThe Second Xiangya HospitalCentral South UniversityChangsha 410011Hunan ProvinceChina

BACKGROUND wilson disease(WD)is the most common genetic metabolic liver *** studies have shown that comorbidities may have important effects on *** on hepatitis B virus(HBV)infection in patients with WD are *** To investigate the prevalence and clinical impact of HBV infection in patients with *** The clinical data of patients with WD were analyzed retrospectively,and the data of patients with concurrent WD and HBV infection were compared with those of patients with isolated *** Among a total of 915 WD patients recruited,the total prevalence of current and previous HBV infection was 2.1%[95%confidence interval(CI):1.2%-3.0%]and 9.2%(95%CI:7.3%-11.1%),*** main finding of this study was the identification of 19 patients with concurrent WD and chronic hepatitis B(CHB)*** diagnosis of WD was missed in all but two patients with CHB *** mean delay in the diagnosis of WD in patients with concurrent WD and CHB infection was 32.5 mo,which was significantly longer than that in patients with isolated WD(10.5 mo).The rates of severe liver disease and mortality in patients with concurrent WD and CHB infection were significantly higher than those in patients with isolated WD(63.1%vs 19.3%,P=0.000 and 36.8%vs 4.1%,Pdisease at the diagnosis of WD in patients with current HBV infection[odds ratio(OR)=7.748;95%CI:2.890-20.774;P=0.000)]or previous HBV infection(OR=5.525;95%CI:3.159-8.739;P=0.000)than in patients with isolated *** The total prevalence of current HBV infection in patients with WD was 2.1%.The diagnosis of WD in CHB patients is usually *** infection is an independent risk factor for severe liver disease in WD *** diagnosis of WD should be ruled out in some patients with CHB infection.

关键词： wilson disease Hepatitis B virus Chronic hepatitis B Kayser-Fleischer ring Ceruloplasmin Concurrent wilson disease and hepatitis B virus infection

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