scholarly journals Peculiarities of clinical course of Wilson's disease in children

2021 ◽  
pp. 6-12
Author(s):  
V.S. Berezenko ◽  
◽  
V.V. Krat ◽  
T.D. Zadoroznaja ◽  
I.M. Andrusishina ◽  
...  
Keyword(s):  
Liver Cirrhosis ◽  
Chronic Hepatitis ◽  
Wilson Disease ◽  
Fulminant Hepatitis ◽  
Wilson’S Disease ◽  
Clinical Symptoms ◽  
Wilson's Disease ◽  
Lower Serum ◽  
Serum Ceruloplasmin ◽  
Cirrhotic Patients

Purpose — to discover peculiarities of Wilson disease course in children dependently on the variant of liver affection. Materials and methods. Anamnesis of the disease and clinical and paraclinical peculiarities of the course of the disease with consideration of liver affection severity have been studied in 50 children aged 5–17 years. Results. It was estimated that in 52% of children the disease had a form of chronic hepatitis with minimal clinical symptoms, 44% of patients had liver cirrhosis with predominant signs of edematous and ascitic syndrome and 4% had fulminant hepatitis in a debut of the disease. Complicated family anamnesis was detected in 4% of patients. Syndrome of cytolysis predominated in patients with liver damage in the form of chronic hepatitis (р<0.05). Typical biochemical changes in cirrhotic patients were hepatocellular insufficiency with hypoalbuminemia and coagulopathy, hyperbilirubinemia and minimal hypertransaminasemia (р<0.05). Children with cirrhosis in contrast to patients with chronic hepatitis had reliably lower serum ceruloplasmin concentration and reliably higher excretion of copper with urine. Specific for Wilson disease Kayser—Fleischer rings were found out in 36% of patients only. Conclusions. Wilson's disease in children is characterized by progressing course in the form of either chronic hepatitis or liver cirrhosis or, rarely, fulminant hepatitis. Clinical and paraclinical symptoms of the disease are estimated by the severity of liver affection and vary from a course with minimal symptoms in patients with chronic hepatitis to edematous and ascitic syndrome and hepatocellular insufficiency in patients with cirrhosis and fulminant hepatitis. The research was carried out in accordance with the principles of the Helsinki declaration. The study protocol was approved by the Local Ethics Committee of all participating institution. The informed consent of the patient was obtained for conducting the studies. No conflict of interest was declared by the authors. Key words: Wilson's disease, children, chronic hepatitis, liver cirrhosis, course of the disease.

Genetic and clinical characteristic of Wilson-Konovalov disease in the Siberian region

2021 ◽  
pp. 53-56
Author(s):  
И.Ж. Жалсанова ◽  
Е.А. Фонова ◽  
А.А. Сивцев ◽  
А.Е. Постригань ◽  
Т.А. Саковская ◽  
...  
Keyword(s):  
Wilson’S Disease ◽  
Clinical Symptoms ◽  
Molecular Genetic ◽  
Copper Metabolism ◽  
Illumina Miseq ◽  
Wilson's Disease ◽  
Molecular Genetic Analysis ◽  
Clinical Diagnostics ◽  
Diagnostic Methods ◽  
Serum Ceruloplasmin

Болезнь Вильсона-Коновалова - редкое аутосомно-рецессивное заболевание, которое характеризуется патологическим накоплением меди в печени, головном мозге и других тканях. Дифференциальная диагностика болезни Вильсона-Коновалова представляет собой сложную задачу вследствие выраженной гетерогенности клинических проявлений. Это подчеркивает важность разработки как новых методов диагностики, так и усовершенствования существующих. В рамках настоящего исследования было проведено сравнение клинической диагностики заболевания с результатами молекулярно-генетических исследований. Проанализировано 42 пациента с подозрением на болезнь Вильсона-Коновалова. Произведена оценка значения биохимических показателей метаболизма меди (концентрация церулоплазмина, щелочной фосфатазы, общего билирубина, АСТ, АЛТ сыворотки крови, содержание меди в печени, экскреция меди с мочой) согласно Лейпцигской количественной шкале. Для молекулярно-генетического анализа использовали геномную ДНК. Обогащение интересуемых регионов генома проводилось с помощью ПЦР длинных фрагментов. Для подготовки ДНК библиотек был использован набор Nextera DNA Flex (Illumina, США). Секвенирование проводилось на приборе Illumina MiSeq (Illumina, США). В результате исследования в 62,5% случаев у пациентов, направленных на подтверждение диагноза (по Лейпцигской количественной шкале), были найдены мутации в гене ATP7B, что подтверждает ценность комплексной диагностики по Лейпцигской количественной шкале с учетом клинической симптоматики и лабораторных показателей метаболизма меди. Wilson’s disease is a rare autosomal recessive disorder characterized by abnormal accumulation of copper in the liver, brain, and other tissues. Wilson’s disease differential diagnosis is a difficult task due to the pronounced clinical heterogeneity. This emphasizes the importance of developing both new diagnostic methods and improving existing ones. As part of this study, we compared clinical diagnostics with the results of molecular genetic studies. We analyzed 42 patients with suspected Wilson’s disease. The biochemical parameters copper metabolism values were assessed (serum ceruloplasmin concentration, liver copper content, urinary copper excretion, alkaline phosphatase, total bilirubin, AST, ALT) according to the Leipzig quantitative scale. We used genomic DNA for molecular genetic analysis. Regions of interest in the genome was enriched using long-range PCR. The Nextera DNA Flex kit (Illumina, USA) was used to prepare DNA libraries. Sequencing was performed on an Illumina MiSeq device (Illumina, USA). As a result of the study, in 62.5% of cases in patients aimed at confirming the diagnosis (according to the Leipzig quantitative scale), we found mutations in the ATP7B gene, which confirms the value of a comprehensive diagnosis according to the Leipzig quantitative scale, taking into account the clinical symptoms and copper metabolism laboratory parameters.

scholarly journals Cholangiocarcinoma in Wilson’s Disease – a Case Report

2017 ◽  
Vol 26 (3) ◽  
pp. 305-308
Author(s):  
Dániel Németh ◽  
Anikó Folhoffer ◽  
Gábor Smuk ◽  
Béla Kajtár ◽  
Tamás Tornóczky ◽  
...  
Keyword(s):  
Wilson’S Disease ◽  
Treatment Initiation ◽  
Clinical Symptoms ◽  
Rapid Development ◽  
Primary Tumour ◽  
Chelating Agent ◽  
Wilson's Disease ◽  
Protective Role ◽  
Ceruloplasmin Level

It has been suggested that hepatobiliary carcinomas are less frequent in Wilson’s disease (WD) than in liver diseases of other etiology. However, the protective role of copper against malignancies is debated. Only a few cases of cholangiocarcinoma (CCC) in WD have been published. Here we report on a case of a 47-year-old male H1069Q homozygous, Kayser-Fleischer ring positive WD patient with a low ceruloplasmin level who was followed up and treated with chelating agents throughout nine years. The patient presented with neurological symptoms and liver cirrhosis at diagnosis. Clinical symptoms regressed after the treatment initiation. Rapidly developed tumour metastases were found in the bones, lung and liver (without jaundice). Autopsy revealed cholangiocarcinoma as the primary tumour confirmed by strong CK7 positivity and glypican-3 negativity. The curiosity of the presented case is the very rapid development of CCC despite continuous chelating agent therapy.Abbreviations: CCC: cholangiocarcinoma; HCC: hepatocellular carcinoma; WD: Wilson disease.

scholarly journals Maternal and Fetal Outcomes of Patients with Liver Cirrhosis:A Case-Control Study

2020 ◽  
Author(s):  
Xiang Gao ◽  
Yunxia Zhu ◽  
Haixia Liu ◽  
Hongwei Yu ◽  
Ming Wang
Keyword(s):  
Liver Cirrhosis ◽  
Wilson’S Disease ◽  
First Trimester ◽  
Wilson's Disease ◽  
Negative Outcomes ◽  
Fetal Outcomes ◽  
Prothrombin Activity ◽  
Multivariable Regression ◽  
Ctp Score ◽  
Primary Assessment

Abstract Objective:We aimed to describe the characteristics and outcomes in pregnant women with liver cirrhosis, and identify the predictors of negative outcome of the mother and fetus.Methods: Retrospectively collect the mothers with liver cirrhosis in our center from 6/2010 to 6/2019. Women without liver cirrhosis were selected as a control in a 1:2 ratio. The primary assessment was the frequency of negative maternal and fetal outcomes. The secondary assessment was the negative outcomes between patients continuing the pregnancy or not and the factors to predict the severe negative outcomes.Results:Of 126 pregnancies enrolled, 29 pregnancies were discontinued for worrying the disease progression and 97 pregnancies were continued. 194 pregnancies without liver cirrhosis were selected as control. At baseline, patients with liver cirrhosis have a lower level of platelet, hemoglobin, Prothrombin activity, and a higher level of ALT, Total Bilirubin, Creatinine. Compared to control, patients with liver cirrhosis have a higher frequency of negative outcomes, including bleeding gums(7.2 %vs. 1.0%), TBA elevation (18.6 %vs.3.1%), infection (10.3 %vs.0.5%), cesarean section (73.6 %vs.49.5%), postpartum hemorrhage(13.8% vs 2.1%), blood transfusion (28.9% vs 2.1%), new ascites or aggravating ascites(6.2% vs.0%), MODS(7.2% vs.0.5%) and intensive care unit admissions(24.1% vs 1.1%). The incidence of severe maternal negative outcomes was also higher (32.0% vs 1.5%). Women who chose to discontinue the pregnancy had less severe negative outcomes (3.4% vs.32.0%).A higher frequency of fetal/infants complication were observed in liver cirrhosis population than control, including newborn asphyxia(10.2% vs1.1%), Low birth weight infant(13.6% vs. 2.6%) .In those patients who progressed into the third trimester, multivariable regression demonstrated that severe negative outcomes were associated with a higher CTP scores (OR 2.128, 95% CI[ 1.002, 4.521] ,p=0.049). Wilson’s disease related liver cirrhosis has a better prognosis (OR= 0.009, 95% CI[0, 0.763], p=0.038).Conclusions:The incidence of the negative outcomes was significantly increased in pregnancies complicated by cirrhosis. The predictor of severe negative outcomes is higher CTP score and Wilson’s disease induced liver cirrhosis have a better prognosis. Timely terminate the pregnancy during the first trimester may avoid the incidence of severe negative outcomes.

Suspected Wilson's Disease Presenting with Normal Serum Ceruloplasmin Levels

2017 ◽  
Vol 09 (01) ◽  
Author(s):  
Atul Singh Rajput ◽  
Gunjan Singh Dalal ◽  
Jyoti Jain
Keyword(s):  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Normal Serum ◽  
Serum Ceruloplasmin

Ultrastructural Features in Active Chronic Hepatitis with Changes Resembling Wilson’s Disease

1986 ◽  
Vol 85 (3) ◽  
pp. 365-369 ◽  
Author(s):  
Maria Margherita de Santi ◽  
Giuseppe Lungarella ◽  
Pietro Luzi ◽  
Clelia Miracco ◽  
Piero Tosi
Keyword(s):  
Chronic Hepatitis ◽  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Active Chronic Hepatitis

scholarly journals Drug Treatment of Patients with Liver Cirrhosis in a Tertiary Hospital in Northern Ghana: Does It Comply with Recommended Guidelines?

2020 ◽  
Vol 2020 ◽  
pp. 1-7
Author(s):  
Baba Sulemana Mohammed ◽  
Matthew Aidoo
Keyword(s):  
Liver Cirrhosis ◽  
Chronic Hepatitis ◽  
Teaching Hospital ◽  
Drug Disposition ◽  
Tertiary Hospital ◽  
Northern Ghana ◽  
Inappropriate Drug ◽  
Cirrhotic Patients ◽  
Tamale Teaching Hospital ◽  
Safety Guidelines

The diverse influence of liver function on drug disposition can lead health-care practitioners to inappropriate drug selection, inappropriate drug dosing, or some level of therapeutic negativism. The aim of this study was to assess how drug prescribing in patients with liver cirrhosis at the Tamale Teaching Hospital comply with recommendations of pharmacotherapy and safety guidelines. A prospective cross-sectional study was conducted from February to July, 2019, at the medical ward of the Tamale Teaching Hospital. A total of 152 liver cirrhotic patients were included in this study. Common etiologies for liver cirrhosis were chronic hepatitis B 80 (52.6%) and chronic hepatitis C 30 (19.7%); about 12.5% of etiologies were unknown. Of the 1842 prescription issued, 69% (1270/1842) were compliant. Of the 572 noncompliant prescriptions, about 32% (183/572) were due to pharmacotherapy and 68% (389/572) due to safety guideline recommendations. There was a substantial number (31%) of prescription noncompliance with recommendations for pharmacotherapy and safety guidelines in liver cirrhotic patients at the tertiary hospital in northern Ghana. Prescribers need to be conscious of the role of the liver in drug elimination and prescribe as recommended by guidelines.

Fatal Fulminant Hepatitis in Wilson's Disease: Report of Two Cases

1989 ◽  
Vol 9 (6) ◽  
pp. 605-608 ◽  
Author(s):  
Abdul Rahman A. Issa ◽  
David L. Wright ◽  
Saad A. M. Tahboob ◽  
Ahmad S. Teebi
Keyword(s):  
Fulminant Hepatitis ◽  
Wilson’S Disease ◽  
Wilson's Disease

Repeated transplantation of hepatocytes prevents fulminant hepatitis in a rat model of Wilson's disease

2012 ◽  
Vol 18 (2) ◽  
pp. 248-259 ◽  
Author(s):  
Vanessa Sauer ◽  
Ramsi Siaj ◽  
Sandra Stöppeler ◽  
Ralf Bahde ◽  
Hans-Ullrich Spiegel ◽  
...  
Keyword(s):  
Rat Model ◽  
Fulminant Hepatitis ◽  
Wilson’S Disease ◽  
Wilson's Disease

scholarly journals Association of variants in the CP, ATOX1 and COMMD1 genes with Wilson disease symptoms in Latvia

2019 ◽  
Vol 22 (2) ◽  
pp. 37-42
Author(s):  
A Zarina ◽  
I Tolmane ◽  
Z Krumina ◽  
AI Tutane ◽  
L Gailite
Keyword(s):  
Wilson’S Disease ◽  
Clinical Symptoms ◽  
Direct Sequencing ◽  
Clinical Manifestations ◽  
Copper Metabolism ◽  
Wilson's Disease ◽  
Allelic Variants ◽  
Functional Changes ◽  
Pathogenic Variants ◽  
Genotype Frequencies

AbstractWilson’s disease (WD) is a copper metabolism disorder, caused by allelic variants in the ATP7B gene. Wilson’s disease can be diagnosed by clinical symptoms, increased copper and decreased cerulopasmin levels, which could all also be by other genetic variants beyond the ATP7B gene, e.g., disturbed ceruloplasmin biosynthesis can be caused by pathogenic allelic variants of the CP gene. Copper metabolism in the organism is affected by several molecules, but pathogenic variants and related phenotypes are described with COMMD1 and ATOX1 genes. The aim of the study was to test other genes, CP, ATOX1 and COMMD1, for possible influence to the manifestation of WD. Patients were enrolled on the basis of Leipzig’s diagnostic criteria, 64 unrelated patients with confirmed WD. Direct sequencing of promoter region of the CP gene and ATOX1 and COMMD1 gene exons was conducted. Statistically significant differences were found between the two variants in the CP gene and the ATP7B genotype (rs66508328 variant AA genotype and the rs11708215 variant GG genotype) were more common in WD patients with an unconfirmed ATP7B genotype. One allelic (intronic) variant was found in the ATOX1 gene without causing the functional changes of the gene. Three allelic variants were identified in the COMMD1 gene. No statistically significant differences were found between allele and genotype frequencies and the first clinical manifestations of WD. Different variants of the CP gene contributed to a WD-like phenotype in clinically confirmed WD patients with neurological symptoms and without identified pathogenic variants in the ATP7B gene. Allelic variants in the ATOX1 and COMMD1 genes do not modify the clinical manifestation of WD in Latvian patients. (266 words)

scholarly journals INITIAL ASSESSMENT FINDINGS IN PATIENTS WITH CONFIRMED WILSON’S DISEASE

2021 ◽  
Vol 5 (2) ◽  
pp. 161-167
Author(s):  
O. A. Zhigaltsova-Kuchinskaya ◽  
◽  
N. N. Silivontchik ◽  
S. A. Likhachev ◽  
I. V. Pleshko ◽  
...  
Keyword(s):  
Wilson’S Disease ◽  
Molecular Genetic ◽  
Wilson's Disease ◽  
Clinical Suspicion ◽  
Initial Assessment ◽  
Serum Free ◽  
Copper Excretion ◽  
Serum Ceruloplasmin ◽  
Urinary Copper ◽  
Urinary Copper Excretion

Bacground. The optimization of Wilson’s disease (WD) diagnosis is one of the most disputable problem. Objective. The retrospective study of initial assessment findings under clinical suspicion for WD in 102 patients with the confirmed diagnosis. Material and methods. The results of laboratory tests and Kaiser-Fleischer rings (KF rings) identification under clinical suspicion for WD in 102 patients with the confirmed diagnosis. Results. At stage I, 17 patients (16.7%; 95% CI 10.7–25.1) were defined as having clinically definitive WD based on the combination of low serum ceruloplasmin and KF rings, 4 patients (3.9%; 95% CI 1.5–9.7) – based on the drop of ceruloplasmin level. After stage II, involving 24-hour urinary copper excretion evaluation, the rate of definitive diagnosis of WD reached 24,5% (95% CI 17.2 33.7). After stage III (genotyping for carriage of ATP7B gene mutations) – 56.9% (95% CI 47.2–66.0). Serum free copper increase was found in 54.9% (95% CI 41.4 67.7) of cases. Conclusions. Under clinical suspicion for WD, initial structured ophthalmological, laboratory and molecular-genetic assessment ensured the diagnosis of WD only in 56.9% (95% CI 56.9; 47.2–66.1). Frequent detection of serum free copper increase (54.9%, 95% CI 41.4 67.7) allows to use this test due to its greater availability as compared with 24-hour urinary copper excretion evaluation in WD diagnostics.

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