scholarly journals Copper and Trace Elements in Gallbladder form Patients with Wilson’s Disease Imaged and Determined by Synchrotron X-ray Fluorescence

2021 ◽  
Vol 7 (12) ◽  
pp. 261
Author(s):  
Wolf Osterode ◽  
Gerald Falkenberg ◽  
Fritz Wrba
Keyword(s):  
Linear Relationship ◽  
Genetic Disease ◽  
Wilson’S Disease ◽  
Copper Metabolism ◽  
Wilson's Disease ◽  
Fundamental Parameter ◽  
X Ray ◽  
Significant Linear Relationship ◽  
Tissue Alterations

Investigations about suspected tissue alterations and the role of gallbladder in Wilson’s disease (WD)—an inherited genetic disease with impaired copper metabolism—are rare. Therefore, tissue from patients with genetically characterised WD was investigated by microscopic synchrotron X-ray fluorescence (µSRXRF). For two-dimensional imaging and quantification of elements, X-ray spectra were peak-fitted, and the net peak intensities were normalised to the intensity of the incoming monochromatic beam intensity. Concentrations were calculated by fundamental parameter-based program quant and external standardisation. Copper (Cu), zinc (Zn) and iron (Fe) along with sulphur (S) and phosphorus (P) mappings could be demonstrated in a near histological resolution. All these elements were increased compared to gallbladder tissue from controls. Cu and Zn and Fe in WD-GB were mostly found to be enhanced in the epithelium. We documented a significant linear relationship with Cu, Zn and sulphur. Concentrations of Cu/Zn were roughly 1:1 while S/Cu was about 100:1, depending on the selected areas for investigation. The significant linear relationship with Cu, Zn and sulphur let us assume that metallothioneins, which are sulphur-rich proteins, are increased too. Our data let us suggest that the WD gallbladder is the first in the gastrointestinal tract to reabsorb metals to prevent oxidative damage caused by metal toxicity.

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 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.

Wilson's Disease: The Role of Penicillamine

1969 ◽  
Vol 134 (11) ◽  
pp. 1336-1339
Author(s):  
Benjamin M. Carmichael
Keyword(s):  
Wilson’S Disease ◽  
Wilson's Disease

scholarly journals MORPHOLOGIC ALTERATIONS PRODUCED BY COPPER IN NEURAL TISSUES WITH CONSIDERATION OF THE ROLE OF THE METAL IN THE PATHOGENESIS OF WILSON'S DISEASE

1961 ◽  
Vol 113 (6) ◽  
pp. 997-1004 ◽  
Author(s):  
F. Stephen Vogel ◽  
John W. Evans
Keyword(s):  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Neural Function ◽  
Cupric Sulfate ◽  
Neurologic Manifestations ◽  
Myelin Sheaths ◽  
Neural Tissues ◽  
Histologic Changes

The injection into the cerebrospinal fluid of cats of 52 to 208 gamma of copper in the form of an albumin complex or as cupric sulfate, was followed by small elevations in the content of metal in the neural tissues, but regularly and promptly produced persistent quadriplegia and conspicuous histologic changes. Smaller amounts of copper caused less, or no, neurologic manifestations or histologic alterations. The earliest lesions were essentially unaccompanied by inflammation and were initially characterized by hydropic swelling of the myelin sheaths. They progressed rapidly to focal necrosis of all parenchymal components with marked degeneration of myelin and axis cylinders in the peripheral margins of the spinal cord, brain stem, mid-brain, and cerebrum. These histologic changes did not occur in neural tissues incubated in vitro in solutions of the copper-albumin complex. They did not appear in animals injected intraventricularly with ferric sulfate or saccharated iron. Considered together, the findings make it clear that copper in concentrations comparable to those present in the neural tissues of patients with Wilson's disease has the property of profoundly altering neural function and causing conspicuous morphologic alterations.

The ontogeny of liver copper metabolism in the guinea pig: Clues to the etiology of Wilson's disease

Hepatology ◽  
1986 ◽  
Vol 6 (3) ◽  
pp. 427-432 ◽  
Author(s):  
Surjit K. S. Srai ◽  
Andrew K. Burroughs ◽  
Bernard Wood ◽  
Owen Epstein
Keyword(s):  
Guinea Pig ◽  
Wilson’S Disease ◽  
Copper Metabolism ◽  
Wilson's Disease ◽  
Liver Copper

Mode of action of triethylenetetramine dihydrochloride on copper metabolism in Wilson's disease

1991 ◽  
Vol 83 (6) ◽  
pp. 364-366 ◽  
Author(s):  
R. Siegemund ◽  
J. Lößner ◽  
K. Günther ◽  
H.-J. Kühn ◽  
H. Bachmann
Keyword(s):  
Mode Of Action ◽  
Wilson’S Disease ◽  
Copper Metabolism ◽  
Wilson's Disease

Effects of copper metabolism on neurological functions in Wistar and Wilson’s disease model rats

2006 ◽  
Vol 349 (3) ◽  
pp. 1079-1086 ◽  
Author(s):  
Noriko Fujiwara ◽  
Hiroyuki Iso ◽  
Nobue Kitanaka ◽  
Junichi Kitanaka ◽  
Hironobu Eguchi ◽  
...  
Keyword(s):  
Wilson’S Disease ◽  
Disease Model ◽  
Copper Metabolism ◽  
Wilson's Disease
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