• Wilson’s disease
• acute liver failure
• children
• fungal infections
• liver transplantation
• living donor
• renal replacement therapy
• therapeutic plasma exchange

• New Wilson index
• Survival with native liver
• Therapeutic plasma exchange
• Wilson disease

• Ceruloplasmin
• copper
• cytopenia
• hepatolenticular degeneration
• liver
• penicillamine

• Humans
• Hepatolenticular Degeneration/diagnosis
• Hepatolenticular Degeneration/drug therapy
• India
• Female
• Male
• Child
• Retrospective Studies
• Child, Preschool
• Copper/blood
• Copper/urine
• Ceruloplasmin/analysis
• Penicillamine/therapeutic use
• Adolescent
• Chelating Agents/therapeutic use
• Infant
• Treatment Outcome
• Tertiary Care Centers

• acute hepatitis
• acute liver failure
• ceruloplasmin
• copper
• liver transplantation

• Humans
• Hepatolenticular Degeneration/complications

• Acute liver failure
• Liver transplantation
• Pediatrics
• Prognosis
• Risk factors

• ATP 7B gene
• Amplicon
• Bangladeshi children
• Exon 14
• Exon 8
• Hot spot
• Novel mutation
• Phenotype
• Wilson disease

• Fulminant
• Liver failure
• Liver transaminases
• Mortality
• New Wilson index
• Screening
• Wilson disease

Wilson's disease (WD) is an autosomal recessive disorder due to ATP7B gene mutation, resulting in defective copper metabolism, with liver and brain being primarily affected. Being a treatable disorder, early diagnosis and proper management of WD may result in near complete recovery. It has received significant attention over the past 50 years, with several Indian contributions. This study collates published Indian studies on WD in Pubmed and Embase databases and puts them in perspective. Several Indian case series suggest that WD may be more prevalent than thought. Commonly detected ATP7B mutation in India is p.C271X. Although initial Indian series reported significant osseomuscular presentation, neuropsychiatric and hepatic manifestations dominated the later reports. A significant male predominance is observed in Indian series. Pure hepatic presentation starts earlier than neurological or osseomuscular WD. A positive family history may be seen in nearly 50% of Indian WD cases with a high rate of consanguinity. Up to two-third of Indian cases may be initially misdiagnosed, with a mean diagnostic delay of up to 2 years. Abnormalities in serum ceruloplasmin and 24-hour urinary copper has been reported in more than four-fifth cases. Brain MRI is abnormal in nearly all neurological WD cases. Copper chelation remains the mainstay of therapy, with D-penicillamine being the most widely used chelator in India. Global Assessment Scale for WD is a comprehensive tool for clinical monitoring. Hepatic presentation carries a five-time higher mortality risk than neurological, with up to 90% Indian neurological WD cases recovering to pre-morbid functionality with adequate therapy.

• Wilson’s disease
• acute liver failure
• children
• diagnosis
• routine biochemical test
• scoring system

The goal of the present work is to provide an overview of the differential diagnosis of Wilson disease.

Wilson disease is a rare condition due to copper accumulation primarily in the liver and brain. Although there is no definitive cure, current anti-copper treatments are associated with better outcomes if initiated early and if the diagnosis is made promptly. However, diagnostic delays are frequent and often Wilson disease represents a diagnostic challenge. The diagnosis ultimately relies on a combination of clinical, laboratory and genetic findings, and it is crucial that clinicians list Wilson disease in their differential diagnosis, especially in patients presenting with a hepatocellular pattern of liver injury. Some biochemical and liver histological features of Wilson disease overlap with those of more common conditions including nonalcoholic fatty liver disease, alcohol-associated liver disease, and autoimmune hepatitis. In particular, hepatic steatosis, hepatocyte glycogenated nuclei, ballooning degeneration, and Mallory-Denk bodies are often identified in Wilson disease as well as more common liver diseases. In addition, the natural history of liver damage in Wilson disease and the risk of developing liver cancer are largely understudied.

We conducted an enlarged review of published papers on Wilson disease focusing on its diagnosis and distinctive clinical and liver pathology features in relation to common non-cholestatic liver diseases with the final goal in aiding clinicians in the diagnostic process of this rare but treatable condition.

Aside from markedly altered copper metabolism, Wilson disease has essentially no pathognomonic features that can distinguish it from more common liver diseases. Clinicians should be aware of this challenge and consider Wilson disease in patients presenting with a hepatocellular pattern of liver injury.

• Wilson disease (WD)
• copper
• diagnosis
• fatty liver
• histology

Hepatitis A is one of the most common infectious causes of acute hepatitis, and currently, a neglected global public health problem necessitating an urgent response in Somalia. Hepatitis A infection and its rare complication of acute liver failure in children are largely based on very limited data. The aim of the study was therefore to investigate the Hepatitis A infection and its rare complication of acute liver failure in children in Somalia.

This retrospective study was conducted on children aged 0–18 years who were admitted to the pediatric departments of the Somalia Mogadishu-Turkey Training and Research Hospital, Somali, from June 2019 and December 2019. Patients who were tested for hepatitis A infection during the study period and had complete data were included. Children with chronic disease, primary or secondary immunodeficiency, blood transfusion history, and missing data were excluded. Abstracted data including patients' demographics, clinical presentation, laboratory results, ultrasonographic findings, length of hospital stay, clinical course and outcome were retrieved from the hospital database system.

Of the 13,047 children, 219 were analyzed. Of the 219 Hepatitis A cases, 25 (11%) were diagnosed with pediatric acute liver failure (PALF). The mean age of children with Hepatitis A was 6.7 years. The majority of cases were reported in the 5–9 (39.7%) year age range. Hepatic encephalopathy, length of hospital stay, levels of albumin, and values of PT, aPPT, and INR were significantly higher in children with acute live failure. The presence of cholecystitis and cholecystitis with ascites in the sonographic evaluation were poor prognostic markers for acute liver failure.

This study revealed hepatitis A virus infection and its related acute liver failure among hospitalized children in Somalia of which 11% had PALF. Hence, the introduction of Hepatitis A vaccination, which is the main public health tool, into the national immunization program, the improvement of hygiene conditions, raising awareness of the disease, and increasing health literacy are necessary to prevent the consequence of the Hepatitis A virus in children.

• Acute liver failure
• Children
• Hepatitis A
• Somalia

Acute liver failure (ALF) can be a primary presentation of Wilson disease (WD). Mortality rates are high in WD with ALF (WDALF). Predictions of mortality in WDALF vary by model and are sometimes contradictory, perhaps because few patients are studied or WD diagnoses are questionable.

To determine the outcomes among well-documented WDALF patients and assess mortality model performance in this cohort.

We reviewed the medical records of our pediatric WDALF patients (n = 41 over 6-years-old, single-center retrospective study) and compared seven prognostic models (King’s College Hospital Criteria, model for end-stage liver disease/pediatric end-stage liver disease scoring systems, Liver Injury Unit [LIU] using prothrombin time [PT] or international normalized ratio [INR], admission LIU using PT or INR, and Devarbhavi model) with one another.

Among the 41 Han Chinese patients with ALF, WD was established by demonstrating ATP7B variants in 36. In 5 others, Kayser-Fleischer rings and Coombs-negative hemolytic anemia permitted diagnosis. Three died during hospitalization and three underwent liver transplantation (LT) within 1 mo of presentation and survived (7.3% each); 35 (85.4%) survived without LT when given enteral D-penicillamine and zinc-salt therapy with or without urgent plasmapheresis. Parameters significantly correlated with mortality included encephalopathy, coagulopathy, and gamma-glutamyl transpeptidase activity, bilirubin, ammonia, and serum sodium levels. Area under the receiver operating curves varied among seven prognostic models from 0.981 to 0.748 with positive predictive values from 0.214 to 0.429.

WDALF children can survive and recover without LT when given D-penicillamine and Zn with or without plasmapheresis, even after enlisting for LT.

• Acute liver failure
• ATP7B
• D-penicillamine
• Liver transplant
• Wilson disease
• Zinc

• ACLF, Acute on Chronic liver Failure
• AKI, Acute kidney injury
• ALF, Acute Liver Failure
• ALFED score
• ALT, alanine transaminase
• AST, aspartate transaminase
• CNS, central nervous system
• CT, Computerized tomography
• HELLP, Hemolysis, elevated liver enzymes, and low platelets
• ICH, Intracrainial hypertension
• ICP, Intracrainial Pressure
• ICU, Intensive care unit
• INR, International normalised ratio
• LAD, Liver assist device
• LDLT, Living donor liver transplantation
• LT, Liver transplantation
• MAP, Mean arterial pressure
• MELD, model for end-stage liver disease
• MLD, Metabolic liver disease
• NAC, N-acetyl cysteine
• PALF, Pediatric ALF
• WD, Wilson's Disease
• acute liver failure
• artificial liver support
• liver transplantation
• plasmapheresis

• D-penicillamine
• Wilson disease
• chelation
• hepatic
• pediatric

• Acute liver failure
• Heterozygote
• Transfusion
• Wilson's disease

Wilson disease (WD) is a rare copper metabolism disorder with symptoms including hepatic disorders, neuropsychiatric abnormalities, Kayser-Fleischer rings, and hemolysis in association with acute liver failure (ALF). Osteoarthritis is a rare manifestation of WD. We experienced a case of WD with arthritic pain in the knee and liver cirrhosis. Here, we report the clinical course in a WD patient with arthritic pain and liver cirrhosis receiving combination therapy with Zn and a chelator and discuss the cause of arthritic pain.

We present an 11-year-old boy who developed osteoarthritis symptoms and ALF, with a New Wilson Index Score (NWIS) of 12. He was diagnosed with WD with decreased serum ceruloplasmin and copper levels, increased urinary copper excretion, and ATP7B gene mutations detected on gene analysis. There was improvement in the liver cirrhosis, leading to almost normal liver function and liver imaging, one year after receiving combination therapy with Zn and a chelator. Moreover, his arthritic pain transiently deteriorated but eventually improved with a decrease in the blood alkaline phosphatase levels following treatment.

Patients with WD who develop ALF with an NWIS > 11 may survive after treatment with Zn and chelators, without liver transplantation, when they present with mild hyperbilirubinemia and stage ≤ II hepatic encephalopathy. Osteoarthritis symptoms may improve with long-term Zn and chelator therapy without correlation of liver function in WD.

• Acute liver failure
• New Wilson Index
• Osteoarthritis
• Wilson disease
• Case report

• ATP7B gene
• Wilson disease
• clinical features
• early diagnosis
• hepatic damage

• AASLD, American Association for the Study of Liver Diseases
• ACLF, Acute on Chronic Liver Failure
• ALF, Acute Liver Failure
• ALT, Alanine Transaminase
• AST, Aspartate Transaminase
• Cu, Copper
• DP, D-Penicillamine
• EASL, European Association for the Study of the Liver
• GAS for WD, Global Assessment Scale for Wilson's Disease
• HCC, Hepatocellular Carcinoma
• INR, International Normalized Ratio
• KF, Kayser-Fleischer
• LT, Liver Transplantation
• MARS, Molecular Absorption Recirculating System
• MELD, Model for End-Stage Liver Disease
• MRI, Magnetic Resonance Imaging
• NGS, Next-Generation Sequencing
• NWI, New Wilson's Index
• PELD, Pediatric end stage liver disease
• TPE, Total Plasma Exchange
• TTM, Tetrathiomolybdate
• WD, Wilson's Disease
• Wilson's disease scoring
• genetic disorder
• modified Leipzig scoring
• rare disease

• Chronic liver disease
• Urinary copper
• Wilson's disease

• Wilson disease
• acute liver failure
• liver transplantation
• new Wilson index
• plasma exchange
• zinc therapy

To analyze the clinical and laboratory features and determine the predictors of acute liver failure (ALF) among inpatients with anti-tuberculosis (TB) drug-induced liver injury (DILI).

Patients diagnosed with anti-TB DILI from 2010 to 2016 at The First Affiliated Hospital of Zhejiang University were retrospectively included in this study. Demographic and clinical data were collected by reviewing electronic medical records.

Among 155 inpatients with anti-TB DILI, 55 (35.48%) developed ALF, with an overall mortality of 9.68%. The median time to DILI onset was significantly longer in the ALF compared with the non-ALF group (51 versus 24 days). Eighty-three patients (53.55%) developed DILI (53.55%) within the first month of anti-TB treatment, and 60% of ALF cases occurred within 2 months. Multivariable models for ALF incorporating aspartate aminotransferase, total bilirubin, platelets, white blood cell count, and pre-existing hepatitis yielded a concordance (C-statistic) of 98.93%.

The results of this study suggest that approximately half of all cases of DILI occur within the first month, while 60% of ALF cases occur within 2 months. Elevated total bilirubin, aspartate aminotransferase, white blood cell count, pre-existing hepatitis, and low platelet count are independent risk factors for the development of anti-TB drug-induced ALF.

• Antitubercular agent
• acute liver failure
• aspartate aminotransferase
• drug-induced liver injury
• hepatitis
• platelet count
• risk factor
• total bilirubin
• white blood cell count

• fulminant
• natural history
• death
• liver transplant
• spontaneous recovery

• Child
• Child, Preschool
• Humans
• Infant
• Infant, Newborn
• Liver Failure, Acute/etiology
• Liver Failure, Acute/therapy
• Liver Transplantation
• Metabolic Diseases