scholarly journals Spectrum of Hepatic Presentation of Wilson’s Disease in Children Attending A Tertiary Care Centre of Dhaka City

2014 ◽  
Vol 38 (2) ◽  
pp. 86-93 ◽  
Author(s):  
Farhana Bayes ◽  
ASM Bazlul Karim ◽  
Laila Helaly ◽  
Fahmida Bayes ◽  
Md Rukunuzzaman ◽  
...  
Keyword(s):  
Liver Disease ◽  
Liver Diseases ◽  
Tertiary Care ◽  
Chronic Liver ◽  
Tertiary Care Centre ◽  
Serum Ceruloplasmin ◽  
Ceruloplasmin Level ◽  
Urinary Copper ◽  
F Ring ◽  
Urinary Copper Excretion

Background: The incidence of Wilson’s disease (WD) is increasing day by day in every ethnic group worldwide. WD has been found as a common cause of chronic liver disease in children. This study was undertaken to find out the occurrence and different types of hepatic presentation of Wilson’s disease in children admitted with liver diseases at a tertiary care centre of Bangladesh. Methodology: This cross sectional descriptive study was carried out at the department of Paediatric Gastroenterology and Nutrition, BSMMU during the period from March 2008 through April 2010. A total number of 71 children of both sexes aged 3-15 years, who had the features of liver disease (jaundice with or without hepatomegaly / splenomegaly and / or raised serum ALT), were enrolled in this study. For the purpose of the study, the diagnosis of WD was made by the presence of any 2 of the 3 features: presence of K-F ring by slit lamp examination, low serum ceruloplasmin level (<20 mg/dL) and urinary copper excretion of >1600 ?gm /24 hours after penicillamine challenge. Results: Wilson’s disease was found in 31 (43.7%) of 71 children. Among them chronic liver diseases were 18 (58%), acute hepatitis 6 (19.4%), acute liver failure 6 (19.4%) and asymptomatic WD case was 1 (3.2%). The mean age ±SD of WD cases at presentation was 9.87±2.6 years and 22 (70%) cases were male. Maximum numbers of WD cases were found in children below 10 year of age. The two common presenting features of WD cases were jaundice 28 (90.3%) and ascitis (58.1%). Other features were K-F ring, 25 (80.6%) and hepatomegaly, 24 (77.4%). Biochemical findings showed low serum ceruloplasmin level (done in 20 patients) in 20 cases and 24 hours urinary copper excretion of >1600 mg/day in 23 cases. About one third of children presented with liver diseases were diagnosed as Wilson’s disease and about 50% of WD cases presented with chronic liver diseases. Conclusion: Wilson’s disease is a common cause of chronic liver disease. Penicillamine challenge is a reliable diagnostic test for Wilson’s disease. DOI: http://dx.doi.org/10.3329/bjch.v38i2.21142 Bangladesh J Child Health 2014; VOL 38 (2) : 79-85

scholarly journals Clinical and genetic spectrum of monogenic liver diseases in children diagnosed using next generation sequencing: a single centre experience from Kerala

2021 ◽  
Author(s):  
Prasanth Kunjan Nadar Sobhan ◽  
Bindu Sarojam ◽  
Sankar Vaikom Hariharan
Keyword(s):  
Liver Disease ◽  
Next Generation Sequencing ◽  
Liver Diseases ◽  
Clinical Presentation ◽  
Genetic Disorder ◽  
Tertiary Care ◽  
Chronic Liver ◽  
Next Generation ◽  
Infantile Cholestasis ◽  
Generation Sequencing

Background: Children presenting with chronic liver disease have a high likelihood of an underlying genetic disorder. There is a delay in establishing a diagnosis of monogenic liver diseases if relied on typical clinical phenotypes and conventional laboratory investigations or imaging studies alone. Early diagnosis improves patient outcome through timely and adequate therapy.Methods: This study retrospectively analyzed the clinical and genetic spectra of monogenic liver disease in children diagnosed using next-generation sequencing (NGS) in a tertiary care teaching hospital in Kerala. Patients were classified into five groups according to their clinical presentation: neonatal/infantile cholestasis, hepatomegaly/ hepatosplenomegaly, progressive cholestasis (beyond infancy), acute liver failure and decompensated chronic liver disease.Results: There were 31 children enrolled, 14 (45.16%) males and 17 (54.84%) females. The median age at genetic diagnosis was 25.74 months. NGS identified 20 distinct genes related to varying clinical presentation. Six genes were identified in Group A, nine genes were identified in Group B, three genes were identified in Group C and two genes each in Group D and E. JAG1, ABCB4 and PYL1 (13 % each) were the top three genes related to monogenic liver disease in this study.Conclusions: Patients with hepatomegaly or hepatosplenomegaly constituted the major clinical presentation of genetic disorders followed by neonatal/infantile cholestasis in our study. Genetic cholestatic disorders and glycogen storage disorders were the most common monogenic liver diseases. NGS has an important role in the diagnosis of monogenic liver disease in children and can facilitate early medical treatment and predict the prognosis.  

scholarly journals Wilson’s Disease in an Elderly Patient

1995 ◽  
Vol 9 (2) ◽  
pp. 78-80 ◽  
Author(s):  
Maziar Badii ◽  
Henry Wong ◽  
Urs P Steinbrecher ◽  
Hugh J Freeman
Keyword(s):  
Elderly Patient ◽  
Liver Disease ◽  
Chronic Liver Disease ◽  
Wilson’S Disease ◽  
The Elderly ◽  
Wilson's Disease ◽  
Chronic Liver ◽  
Elderly Age ◽  
Serum Ceruloplasmin ◽  
Ceruloplasmin Level

A 65-year-old man with Fanconi’s syndrome was investigated for the cause of chronic liver disease. Wilson’s disease was diagnosed based on the detection of bilateral Kayser-Fleischer rings, a low serum ceruloplasmin level, increased urine copper excretion and positive histochemical stains of his liver for copper. This case is unusual because of the patient’s elderly age at the time of diagnosis and the absence of neurological changes due to Wilson’s disease in spite of advanced hepatic disease and the presence of Kayser-Fleischer rings. Even in the elderly patient, Wilson’s disease should be considered a possible cause of chronic liver disease.

scholarly journals Chronic Liver Diseases- Experience at Tertiary Care Centre of Northern India

2021 ◽  
Vol 5 (5) ◽  
pp. 01-05
Author(s):  
Parveen Malhotra ◽  
Vani Malhotra ◽  
Yogesh Sanwariya ◽  
Isha Pahuja ◽  
Ajay Chugh ◽  
...  
Keyword(s):  
Chronic Hepatitis ◽  
Liver Disease ◽  
Chronic Liver Disease ◽  
Tertiary Care ◽  
Treatment Strategies ◽  
Significant Risk ◽  
Medical Intervention ◽  
Chronic Liver ◽  
Tertiary Care Centre ◽  
Northern India

Introduction: It is important to determine the epidemiological factors like etiology, age, sex, mode of clinical presentation and pattern of development of complications of chronic liver disease, so as to design optimal and cost effective preventive and treatment strategies for the same. Aim: To determine etiology of Chronic liver disease in Northern India. Material and Methods: This was a prospective study done at Medical Gastroenterology Department, PGIMS,Rohtak conducted over a period of ten years i.e. 01.01.2011 to 31.12.2020, on 1000 confirmed patients of chronic liver disease (CLD). Results: The most common etiology seen was Alcoholic liver disease (48.9%), followed by Nonalcoholic liver disease (26.4%), Chronic Hepatitis B (12.3%), Chronic Hepatitis C (9%), Cryptogenic (2.7%) and Autoimmune liver disease related (0.7%). Conclusion: The present study reveals that alcohol is most common cause of chronic liver disease in Northern India. The males of middle age group with rural background are at significant risk of developing CLD, thus requiring immediate social and medical intervention.

scholarly journals Value of Kayser-Fleischer ring as a diagnostic tool for Wilson’s disease in children

2021 ◽  
Vol 3 (Number 1) ◽  
pp. 20-23
Author(s):  
Sadika Kadir ◽  
S M Bazlul Karim ◽  
Mohammed Ashraful Haque ◽  
Rafiqul Islam ◽  
Asif Imran ◽  
...  
Keyword(s):  
Liver Disease ◽  
Diagnostic Tool ◽  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Female Ratio ◽  
Copper Excretion ◽  
Group I ◽  
Urinary Copper ◽  
F Ring ◽  
Urinary Copper Excretion

The Kayser-Fleischer(K-F) ring is the hallmark of Wilson’s disease (WD). In most adults or older children, the diagnosis of Wilson’s disease may be made easily when K-Frings and low ceruloplasmin levels are present. In this study presence of K-F ring has been evaluated among children with liver disease in Bangladesh to improve the management of Chronic liver disease due to WD and reduce complications. This cross-sectional study was carried out at the Department of Paediatric Gastroenterology and Nutrition, BSMMU, Dhaka on 60 children presented with liver disease. Thirty children over three years of age considered as cases (Group-I) and thirty children with non- Wilsonian liver disease as control (Group-II). Slit lamp examination for K-F ring and twenty-four hour urinary copper excretion after giving one gram d-penicillamine 12-hour apart were done in each patient. The efficacy of K-F ring was studied. Mean age of WD patients was 8.9± 2.78 years, with a male female ratio of 1.3: 1. There was significant low level of serum ceruloplasmin in 93.33% of cases (p<.001). After penicillamine challenge, 24-hour urinary copper excretion was found significantly higher in patients with WD (median 3626.5±1698 μg/24h, range 1262- 195000) than non-Wilsonian liver disease (median 450±278.09 μg/24-h, range 47- 2062 μg/24h), (p<.001). K-F ring was found in 15 (50%) patients, absent in all patients of non-Wilsonian liver disease group and the difference was statistically significant (p<.001). Evaluation of Kayser-Fleischer ring is still a very essential diagnostic tool and is a non-invasive, affordable way to assist in the diagnosis of a potentially fatal disease.

CLINICAL PROFILE OF WILSON DISEASE IN CHILDREN IN A TERTIARY CARE CENTRE IN SOUTH INDIA

2021 ◽  
pp. 29-30
Author(s):  
Sumathi Bavanandam
Keyword(s):  
Liver Disease ◽  
Chronic Liver Disease ◽  
Wilson Disease ◽  
South India ◽  
Tertiary Care ◽  
Chronic Liver ◽  
Care Centre ◽  
Tertiary Care Centre ◽  
Indian Children ◽  
Metabolic Liver Disease

Background: Wilson disease (WD) is the most common metabolic liver disease in Indian children with late presentation mandating early identication and treatment to prevent disease related morbidity and mortality. Aim: To study the clinical prole of Wilson disease in a tertiary referral care centre for children in South India. Material & Methods: Retrospective descriptive analysis of medical records of children with Wilson disease over ve years from January 2014 to January 2018 admitted in Paediatric Gastroenterology department, Institute of child health & Hospital was done. Results: There were 75 children, 36 male 39 Female (1:1.08) with age ranging from 4 to 12 years. Clinical features include asymptomatic stage 7(9.3%). hepatic phenotype in 53 (70.6%) and neurophenotype in 15 (20%) children. Growth retardation was observed in 64 (85%), Kayser Fleischer ring in 30 (40%), Jaundice in 45 (60%), chronic liver disease in 40 (65.3%) out of which 21 (52.5%) children presented with decompensated liver disease and 14 children died during the study period with 18.7% mortality. Laboratory tests showed mean Hb 9.8 gm/dl SGOT 254 IU/L, SGPT 154 IU/L, albumin 2.2 gm/dl, low serum ceruloplasmin < 20mg/dl in 49 (65.3%), 24 hours urinary copper after D. Penicillamine challenge 680.4 µgm /day. Majority tolerated oral chelation therapy with D. Penicillamine except in 3. Conclusion:WD is the most common metabolic liver disease in children with chronic liver disease with 18.7%h mortality rate

scholarly journals The Role of the Gut Microbiome in Liver Cirrhosis Treatment

2020 ◽  
Vol 22 (1) ◽  
pp. 199
Author(s):  
Na Young Lee ◽  
Ki Tae Suk
Keyword(s):  
Liver Cirrhosis ◽  
Liver Disease ◽  
Liver Fibrosis ◽  
Gut Microbiota ◽  
Gut Microbiome ◽  
Liver Diseases ◽  
Sclerosing Cholangitis ◽  
Chronic Liver ◽  
Chronic Liver Diseases

Liver cirrhosis is one of the most prevalent chronic liver diseases worldwide. In addition to viral hepatitis, diseases such as steatohepatitis, autoimmune hepatitis, sclerosing cholangitis and Wilson’s disease can also lead to cirrhosis. Moreover, alcohol can cause cirrhosis on its own and exacerbate chronic liver disease of other causes. The treatment of cirrhosis can be divided into addressing the cause of cirrhosis and reversing liver fibrosis. To this date, there is still no clear consensus on the treatment of cirrhosis. Recently, there has been a lot of interest in potential treatments that modulate the gut microbiota and gut-liver axis for the treatment of cirrhosis. According to recent studies, modulation of the gut microbiome by probiotics ameliorates the progression of liver disease. The precise mechanism for relieving cirrhosis via gut microbial modulation has not been identified. This paper summarizes the role and effects of the gut microbiome in cirrhosis based on experimental and clinical studies on absorbable antibiotics, probiotics, prebiotics, and synbiotics. Moreover, it provides evidence of a relationship between the gut microbiome and liver fibrosis.

scholarly journals Challenging management of severe chronic disorders in acute pandemic situation: Chronic liver disease under COVID-19 pandemic as the proof-of-principle model to orchestrate the measures in 3PM context

2021 ◽  
Vol 12 (1) ◽  
pp. 1-14
Author(s):  
Lubomir Skladany ◽  
Tomas Koller ◽  
Svetlana Adamcova Selcanova ◽  
Janka Vnencakova ◽  
Daniela Jancekova ◽  
...  
Keyword(s):  
Liver Disease ◽  
Chronic Liver Disease ◽  
Tertiary Care ◽  
Chronic Liver ◽  
Active Management ◽  
Comprehensive Treatment ◽  
List Type ◽  
Individualized Care ◽  
Chronic Disorder ◽  
Tertiary Center

AbstractChronic liver disease management is a comprehensive approach requiring multi-professional expertise and well-orchestrated healthcare measures thoroughly organized by responsible medical units. Contextually, the corresponding multi-faceted chain of healthcare events is likely to be severely disturbed or even temporarily broken under the force majeure conditions such as global pandemics. Consequently, the chronic liver disease is highly representative for the management of any severe chronic disorder under lasting pandemics with unprecedented numbers of acutely diseased persons who, together with the chronically sick patient cohorts, have to be treated using the given capacity of healthcare systems with their limited resources. Current study aimed at exploring potentially negative impacts of the SARS CoV-2 outbreak on the quality of the advanced chronic liver disease (ACLD) management considering two well-classified parameters, namely, (1) the continuity of the patient registrations and (2) the level of mortality rates, comparing pre-COVID-19 statistics with these under the current pandemic in Slovak Republic. Altogether 1091 registrations to cirrhosis registry (with 60.8% versus 39.2% males to females ratio) were included with a median age of 57 years for patients under consideration. Already within the very first 3 months of the pandemic outbreak in Slovakia (lockdown declared from March 16, 2020, until May 20, 2020), the continuity of the patient registrations has been broken followed by significantly increased ACLD-related death rates. During this period of time, the total number of new registrations decreased by about 60% (15 registrations in 2020 versus 38 in 2018 and 38 in 2019). Corresponding mortality increased by about 52% (23 deaths in 2020 versus 10 in 2018 and 12 in 2019). Based on these results and in line with the framework of 3PM guidelines, the pandemic priority pathways (PPP) are strongly recommended for maintaining tertiary care uninterrupted. For the evidence-based implementation of PPP, creation of predictive algorithms and individualized care strategy tailored to the patient is essential. Resulting classification of measures is summarized as follows: The Green PPP Line is reserved for prioritized (urgent and comprehensive) treatment of patients at highest risk to die from ACLD (tertiary care) as compared to the risk from possible COVID-19 infection. The Orange PPP Line considers patients at middle risk of adverse outcomes from ACLD with re-addressing them to the secondary care. As further deterioration of ACLD is still probable, pro-active management is ascertained with tertiary center serving as the 24/7 telemedicine consultation hub for a secondary facility (on a physician-physician level). The Red PPP Line is related to the patients at low risk to die from ACLD, re-addressing them to the primary care. Since patients with stable chronic liver diseases without advanced fibrosis are at trivial inherent risk, they should be kept out of the healthcare setting as far as possible by the telemedical (patient-nurse or patient- physician) measurements. The assigned priority has to be monitored and re-evaluated individually—in intervals based on the baseline prognostic score such as MELD. The approach is conform with principles of predictive, preventive and personalized medicine (PPPM / 3PM) and demonstrates a potential of great clinical utility for an optimal management of any severe chronic disorder (cardiovascular, neurological and cancer) under lasting pandemics.

scholarly journals Nonalcoholic Fatty Liver Disease in Canadian First Nations and Non-First Nations Patients

2016 ◽  
Vol 2016 ◽  
pp. 1-6 ◽  
Author(s):  
Julia Uhanova ◽  
Gerald Minuk ◽  
Federico Lopez Ficher ◽  
Natasha Chandok
Keyword(s):  
Liver Disease ◽  
Fatty Liver ◽  
Nonalcoholic Fatty Liver Disease ◽  
First Nations ◽  
Liver Enzyme ◽  
Fatty Liver Disease ◽  
Clinical Laboratory ◽  
Tertiary Care ◽  
Tertiary Care Centre ◽  
Nonalcoholic Fatty Liver

Background.Features of nonalcoholic fatty liver disease (NAFLD) have yet to be described in the Canadian First Nations (FN) population. The aim of this study was to compare the prevalence, severity, and outcome of NAFLD in FN versus non-FN patients at an urban, tertiary care centre.Methods.Adults with NAFLD and no additional liver disease were identified in a prospectively derived database at the University of Manitoba. Demographic, clinical, laboratory, imaging, and histologic data were analyzed.Results.482 subjects fulfilled diagnostic criteria for NAFLD, including 33 (7%) FN. Aside from rural residence, diabetes and cholestasis being more common in FN patients, the ages, gender distributions, clinical and radiologic features, and liver enzyme/function test results were similar in the two cohorts. Noninvasive tests of fibrosis (APRI and NAFLD fibrosis scores) were also similar in the two cohorts. There were no significant differences in liver enzyme or function tests in either cohort after approximately three years of follow-up.Conclusion.Compared to the prevalence of FN persons in the general population of this study site (10–15%), FN patients were underrepresented in this NAFLD population. The severity and progression of liver disease in FN patients appear to be similar to those in non-FN patients.

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