scholarly journals Urinary Copper Elevation in a Mouse Model of Wilson's Disease Is a Regulated Process to Specifically Decrease the Hepatic Copper Load

PLoS ONE ◽  
2012 ◽  
Vol 7 (6) ◽  
pp. e38327 ◽  
Author(s):  
Lawrence W. Gray ◽  
Fangyu Peng ◽  
Shannon A. Molloy ◽  
Venkata S. Pendyala ◽  
Abigael Muchenditsi ◽  
...  
Keyword(s):  
Mouse Model ◽  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Hepatic Copper ◽  
Urinary Copper

scholarly journals Wilson’s Disease Presenting in Late Adult Life

2021 ◽  
pp. 142-146
Author(s):  
Wafa AlDhaleei ◽  
Maryam AlAhmad ◽  
Ibrahim Alhosani
Keyword(s):  
Wilson’S Disease ◽  
Adult Life ◽  
Copper Metabolism ◽  
Wilson's Disease ◽  
Serum Copper ◽  
Hepatic Copper ◽  
Urinary Copper ◽  
Clinical Presentations ◽  
Function Impairment ◽  
Diagnostic Management

Wilson’s disease (WD) is an autosomal recessive disease affecting the copper metabolism resulting in various clinical presentations. Diagnosis includes the presence of low serum copper and ceruloplasmin concentrations, increased urinary copper excretion, and/or increased hepatic copper concentrations. Yet, genetic testing remains diagnostic. Management includes copper chelating agents and liver transplant in advance cases. We report a case of WD presenting with liver function impairment in late adult life and started on treatment. Therefore, early diagnosis and treatment of WD can prevent related complications.

Uneven hepatic copper distribution in Wilson's disease

1995 ◽  
Vol 22 (3) ◽  
pp. 303-308 ◽  
Author(s):  
Gavino Faa ◽  
Valeria Nurchi ◽  
Luigi Demelia ◽  
Rossano Ambu ◽  
Giuseppina Parodo ◽  
...  
Keyword(s):  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Hepatic Copper ◽  
Copper Distribution

A comparison of copper-loading disease in Bedlington terriers and Wilson's disease in humans

1982 ◽  
Vol 243 (3) ◽  
pp. G226-G230 ◽  
Author(s):  
L. C. Su ◽  
S. Ravanshad ◽  
C. A. Owen ◽  
J. T. McCall ◽  
P. E. Zollman ◽  
...  
Keyword(s):  
Copper Concentration ◽  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Normal Brain ◽  
Glutamic Pyruvic Transaminase ◽  
Serum Glutamic Pyruvic Transaminase ◽  
Hepatic Copper ◽  
Erythrocyte Survival ◽  
Ceruloplasmin Activity

Eleven Bedlington terriers were found to have a mean hepatic copper concentration of 6,321 micrograms/g dry wt (normal, 200 micrograms/g dry wt) and renal copper concentration that was three or four times normal. Brain copper levels were normal in younger dogs, were elevated in two older dogs, and were 100 times normal in one dog that died of the disease. Increased concentrations of copper in the liver, kidney, and brain also characterize Wilson's disease. Erythrocyte survival was normal in three affected dogs, but serum glutamic-pyruvic transaminase levels were usually elevated. Unlike the hypoceruloplasminemia of patients with Wilson's disease, plasma ceruloplasmin activity was not only normal but was also slightly elevated in the terriers. Despite their normal or excessive ceruloplasmin, the Bedlington terriers could convert ionic 64Cu to radioceruloplasmin but did so only very slowly. These dogs accumulated significantly more 64Cu in their livers than normal, much like patients with Wilson's disease do before symptoms develop.

scholarly journals Elevated Copper Remodels Hepatic RNA Processing Machinery in the Mouse Model of Wilson's Disease

2011 ◽  
Vol 406 (1) ◽  
pp. 44-58 ◽  
Author(s):  
Jason L. Burkhead ◽  
Martina Ralle ◽  
Phillip Wilmarth ◽  
Larry David ◽  
Svetlana Lutsenko
Keyword(s):  
Mouse Model ◽  
Rna Processing ◽  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Processing Machinery

scholarly journals A systems approach implicates nuclear receptor targeting in the Atp7b−/− mouse model of Wilson's disease

Metallomics ◽  
2012 ◽  
Vol 4 (7) ◽  
pp. 660 ◽  
Author(s):  
Phillip A. Wilmarth ◽  
Kristopher K. Short ◽  
Oliver Fiehn ◽  
Svetlana Lutsenko ◽  
Larry L. David ◽  
...  
Keyword(s):  
Mouse Model ◽  
Nuclear Receptor ◽  
Wilson’S Disease ◽  
Systems Approach ◽  
Wilson's Disease ◽  
Receptor Targeting

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.

Metabolism of 25-hydroxyvitamin D in copper-laden rat: a model of Wilson's disease

1988 ◽  
Vol 254 (2) ◽  
pp. E150-E154
Author(s):  
T. O. Carpenter ◽  
M. L. Pendrak ◽  
C. S. Anast
Keyword(s):  
Vitamin D ◽  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Vitamin D Metabolism ◽  
Hydroxyvitamin D ◽  
Dihydroxyvitamin D ◽  
Hepatic Copper ◽  
25 Hydroxyvitamin D ◽  
Potential Factor

Wilson's disease results in excess tissue accumulation of copper and is often complicated by skeletal and mineral abnormalities. We investigated vitamin D metabolism in rats fed a copper-laden diet rendering hepatic copper content comparable with that found in Wilson's disease. Injection of 25-hydroxyvitamin D3 [25(OH)D3] resulted in reduced 1,25-dihydroxyvitamin D [1,25(OH)2D] levels in copper-intoxicated rats. In vitro 25(OH)D-1 alpha-hydroxylase activity was impaired in renal mitochondria from copper-intoxicated animals. Activity was also inhibited in mitochondria from controls when copper was added to incubation media. Impaired conversion of 25(OH)D to 1,25(OH)2D occurs in copper intoxication and suggests that altered vitamin D metabolism is a potential factor in the development of bone and mineral abnormalities in Wilson's disease.

Early cell transplantation in LEC rats modeling Wilson's disease eliminates hepatic copper with reversal of liver disease

2002 ◽  
Vol 122 (2) ◽  
pp. 438-447 ◽  
Author(s):  
Harmeet Malhi ◽  
Adil N. Irani ◽  
Irene Volenberg ◽  
Michael L. Schilsky ◽  
Sanjeev Gupta
Keyword(s):  
Liver Disease ◽  
Cell Transplantation ◽  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Hepatic Copper ◽  
Lec Rats
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