scholarly journals Management of Acute Wilsonian Hepatitis with Severe Hemolysis: A Successful Combination of Chelation and MARS Dialysis

2021 ◽  
Vol 2021 ◽  
pp. 1-6
Author(s):  
Jeremy Hassoun ◽  
Nathalie Hammer ◽  
Giulia Magini ◽  
Belen Ponte ◽  
Marie Ongaro ◽  
...  
Keyword(s):  
Liver Transplantation ◽  
Chelation Therapy ◽  
Combined Treatment ◽  
Copper Metabolism ◽  
Copper Accumulation ◽  
Blood Transfusions ◽  
Rapid Control ◽  
Progressive Accumulation ◽  
The Brain ◽  
Copper Overload

Wilson’s disease is a rare hereditary disorder of copper metabolism leading to progressive accumulation of copper in several organs including the brain and the liver. Acute liver failure is a relatively rare hepatic manifestation of WD which may require urgent liver transplantation if medical treatment fails. We report here the case of a young woman who presented with classic acute Wilsonian hepatitis complicated by liver and renal failure and a severe hemolysis related to massive nonceruloplasmin bound copper accumulation requiring repeated blood transfusions. The early initiation of a combined treatment including conventional chelation therapy and repeated MARS dialysis sessions allowed a rapid control of hemolysis, a progressive decrease of free copper overload, and clinical recompensation without liver transplantation.

scholarly journals Wilson Disease-Induced Acute Liver Failure (NWI = 13) Salvaged without Liver Transplant by Plasmapheresis

2021 ◽  
Vol 11 (01) ◽  
pp. e145-e147
Author(s):  
Nida Mirza ◽  
Ravi Bharadwaj ◽  
Smita Malhotra ◽  
Anupam Sibal
Keyword(s):  
Liver Transplantation ◽  
Liver Failure ◽  
Acute Liver Failure ◽  
Wilson Disease ◽  
Prognostic Score ◽  
Prognostic Index ◽  
Kidney Injury ◽  
Copper Metabolism ◽  
Life Saving ◽  
The Brain

AbstractWilson disease (WD) is a disorder of copper metabolism resulting in accumulation of copper in vital organs of the human body, predominantly in the liver and the brain. Acute liver failure in WD has a bad prognosis, especially with a score ≥11 in the revised WD prognostic index; emergency liver transplantation is considered the only life-saving option in this scenario. Here, we reported a girl patient with WD-induced liver failure and poor prognostic score who was rescued by plasmapheresis. She also manifested severe Coombs negative hemolytic anemia and acute kidney injury. This case report highlights the utility of an adjunctive modality besides liver transplantation for the management of fulminant liver failure caused by WD.

Effect of chelators on copper metabolism and copper pools in mouse hepatocytes

1989 ◽  
Vol 256 (4) ◽  
pp. G667-G672
Author(s):  
H. J. McArdle ◽  
S. M. Gross ◽  
I. Creaser ◽  
A. M. Sargeson ◽  
D. M. Danks
Keyword(s):  
Metal Ion ◽  
Chelation Therapy ◽  
Copper Metabolism ◽  
Copper Accumulation ◽  
Copper Uptake ◽  
Mouse Hepatocytes ◽  
Copper Chelators ◽  
Copper Storage ◽  
And Storage

Disorders of copper storage are usually treated by chelation therapy. It is generally thought that the chelators act by mobilizing copper from the liver, hence allowing excretion in the urine. This paper has examined the effect of chelators on copper uptake and storage in mouse hepatocytes. Penicillamine, a clinically important chelator, does not block the uptake of copper or remove copper from hepatocytes. Two other copper chelators, sar and diamsar, which form very stable and kinetically inert Cu2+ complexes by encapsulating the metal ion in an organic cage, were shown to block copper accumulation by the cells and to remove up to 80% of cell-associated copper. They also removed most (approximately 80%) of the 64Cu accumulated by the cells in 30 min, but released only a small percentage (less than 20%) of that accumulated over 18 h. The results show that copper in the hepatocyte can be divided into at least two pools, an easily accessible one, and another, not removable even after long-term incubation with any of the chelators. Most of the copper normally found in the cell appeared to be associated with the former pool.

Wilson’s disease

Open Medicine ◽  
2010 ◽  
Vol 5 (2) ◽  
pp. 145-149
Author(s):  
Mehmet Hursitoglu ◽  
Mehmet Cikrikcioglu ◽  
Ahmet Danalioglu ◽  
Tufan Tukek
Keyword(s):  
Wilson’S Disease ◽  
Clinical Manifestations ◽  
Copper Metabolism ◽  
Autosomal Recessive Disorder ◽  
Wilson's Disease ◽  
Copper Accumulation ◽  
Genetic Studies ◽  
Initiation Of Therapy ◽  
The Brain ◽  
Underlying Pathophysiology

AbstractWilson’s disease is an autosomal-recessive disorder caused by mutation in the ATP7B gene. Absent or reduced function of ATP7B protein leads to decreased hepatocellular excretion of copper into bile. Subsequent copper accumulation, first in the liver but ultimately in the brain and other tissues, produces different clinical manifestations such as hepatic, neurological, hematological, ophthalmological, and psychiatric problems. Diagnosis is based on clinical suspicion, parameters of copper metabolism, ophthalmic examination (Kayser-Fleischer rings) and a liver biopsy. Genetic studies are of limited use. Early diagnosis and initiation of therapy with chelators and therapeutic plasma exchange therapy are essential for prognosis. Liver transplantation corrects the underlying pathophysiology and can be lifesaving in fulminant hepatic failure. Screening of siblings and 1st degree relatives of the patients is also important.

Copper-Induced Epigenetic Changes Shape the Clinical Phenotype in Wilson Disease

2020 ◽  
Vol 27 ◽  
Author(s):  
Daniela Fanni ◽  
Clara Gerosa ◽  
Valeria Marina Nurchi ◽  
Rosita Cappai ◽  
Marta Mureddu ◽  
...  
Keyword(s):  
Wilson Disease ◽  
Clinical Presentation ◽  
Clinical Phenotype ◽  
Methylation Status ◽  
Copper Metabolism ◽  
Epigenetic Factors ◽  
Genetic Changes ◽  
Illness Onset ◽  
Phenotypic Manifestation ◽  
Copper Overload

: Wilson disease is a congenital disorder of copper metabolism whose pathogenesis remains, al least in part, unknown. Subjects carrying the same genotype may show completely different phenotypes, differing for the age at illness onset or for the hepatic, neurologic or psychiatric clinical presentation. The inhability to find a unequivocal correlation between the type of mutation in the ATPase copper transporting beta (ATP7B) gene and the phenotypic manifestation, induced many authors to look for epigenetic factors interacting with the genetic changes. Here the evidences regarding the ability of copper overload to change the global DNA methylation status are discussed.

Does CSF copper level in Wilson disease reflect copper accumulation in the brain?

1988 ◽  
Vol 4 (1) ◽  
pp. 35-37 ◽  
Author(s):  
Hiroko Kodama ◽  
Ichiro Okabe ◽  
Masayoshi Yanagisawa ◽  
Hiroko Nomiyama ◽  
Kazuo Nomiyama ◽  
...  
Keyword(s):  
Wilson Disease ◽  
Copper Accumulation ◽  
Copper Level ◽  
The Brain

The Need for Consensus About Liver Transplantation For Patients With Neuropsychiatric Wilson’s Disease

2021 ◽  
pp. 152692482110028
Author(s):  
Alberto Ferrarese ◽  
Patrizia Burra
Keyword(s):  
Liver Transplantation ◽  
Patient Outcomes ◽  
Wilson’S Disease ◽  
Therapeutic Option ◽  
Copper Metabolism ◽  
Wilson's Disease ◽  
Published Data ◽  
Neurological Improvement ◽  
Effective Therapeutic Option

Liver transplantation is considered an effective therapeutic option for Wilson’s disease (WD) patients with hepatic phenotype, since it removes the inherited defects of copper metabolism, and is associated with excellent graft and patient outcomes. The role of liver transplantation in WD patients with mixed hepatic and neuropsychiatric phenotype has remained controversial over time, mainly because of high post-operative complications, reduced survival and a variable, unpredictable rate of neurological improvement. This article critically discusses the recently published data in this field, focussing in more detail on isolated neuropsychiatric phenotype as a potential indication for liver transplantation in WD patients.

scholarly journals A case of acute hepatitis B on the patient of primary biliary cirrhosis who was registered for the brain-death donor liver transplantation

Kanzo ◽  
2014 ◽  
Vol 55 (3) ◽  
pp. 176-181 ◽  
Author(s):  
Mai Hirae ◽  
Takehisa Watanabe ◽  
Yoko Yoshimaru ◽  
Takeshi Kawasaki ◽  
Kazuhiro Izumi ◽  
...  
Keyword(s):  
Liver Transplantation ◽  
Primary Biliary Cirrhosis ◽  
Hepatitis B ◽  
Brain Death ◽  
Acute Hepatitis ◽  
Biliary Cirrhosis ◽  
Donor Liver ◽  
Donor Liver Transplantation ◽  
Acute Hepatitis B ◽  
The Brain

scholarly journals Testicular function in patients with regular blood transfusion for thalassemia major

2015 ◽  
Vol 9 (2) ◽  
Author(s):  
Sukumarn Siripunthana ◽  
Taninee Sahakitrungruang ◽  
Suttipong Wacharasindhu ◽  
Darintr Sosothikul ◽  
Vichit Supornsilchai
Keyword(s):  
Blood Transfusion ◽  
Chelation Therapy ◽  
Cell Function ◽  
Iron Chelation ◽  
Thalassemia Major ◽  
Delayed Puberty ◽  
Control Group ◽  
Blood Transfusions ◽  
Testicular Function ◽  
Iron Chelation Therapy

AbstractBackgroundRegular blood transfusion and iron chelation therapy have improved the quality of life of patients with thalassemia and increased their longevity, but transfusion also increases the frequency of endocrine complications, possibly because of iron deposition in the pituitary gland or the gonads, or both.ObjectiveTo evaluate testicular function in patients with thalassemia major by basal hormonal study, and identify risk factors for dysfunction.MethodsWe performed a cross-sectional study of 28 patients with thalassemia major aged 11.7 ± 1.8 (8–14.9) years (15 in prepuberty, 13 in puberty with no delayed puberty) who had regular blood transfusions. A normal control group comprised 64 boys who were matched for age and Tanner genital stage.ResultsThe mean level of serum ferritin in the previous year was 1,575 ± 642 ng/mL, and the onset of blood transfusion was at 3.8 ± 2.3 years and iron chelation therapy was 6.6 ± 2.8 years. The trend for anti-Müllerian hormone levels in patients and controls was similar with age, and although higher in the patients, particularly at Tanner stage II, was not significantly different. Testosterone levels were lower in the patients compared with controls; particularly at Tanner stages IV–V (290.88 vs. 537.4 ng/dL,ConclusionPatients who received regular blood transfusions had normal Sertoli cell function. Leydig cell dysfunction may occur, even though the patients had a normal pubertal onset.

scholarly journals Wilson disease: more than meets the eye

2018 ◽  
Vol 94 (1112) ◽  
pp. 335.2-347 ◽  
Author(s):  
Claire Kelly ◽  
Marinos Pericleous
Keyword(s):  
Liver Transplantation ◽  
Liver Disease ◽  
Liver Failure ◽  
Acute Liver Failure ◽  
High Mortality ◽  
Mortality Risk ◽  
Wilson Disease ◽  
Copper Metabolism ◽  
High Mortality Risk ◽  
High Index Of Suspicion

Wilson disease is a rare but important disorder of copper metabolism, with a failure to excrete copper appropriately into bile. It is a multisystem condition with presentations across all branches of medicine. Diagnosis can be difficult and requires a high index of suspicion. It should be considered in unexplained liver disease particularly where neuropsychiatric features are also present. Treatments are available for all stages of disease. A particularly important presentation not to overlook is acute liver failure which carries a high mortality risk and may require urgent liver transplantation. Here, we provide an overview of this complex condition.

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