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.

Hepatocyte-specific localization and copper-dependent trafficking of the Wilson’s disease protein in the liver

1999 ◽  
Vol 276 (3) ◽  
pp. G639-G646 ◽  
Author(s):  
Mark Schaefer ◽  
Robin G. Hopkins ◽  
Mark L. Failla ◽  
Jonathan D. Gitlin
Keyword(s):  
Wilson’S Disease ◽  
Neuronal Degeneration ◽  
Copper Metabolism ◽  
Wilson's Disease ◽  
Polyclonal Antiserum ◽  
Copper Excretion ◽  
Hepatic Expression ◽  
Hepatic Copper ◽  
Disease Protein

Wilson’s disease is an inherited disorder of copper metabolism characterized by hepatic cirrhosis and neuronal degeneration. In this current study, a polyclonal antiserum specific for the Wilson’s disease ATPase was used to examine the hepatic expression of this protein. Immunoblot analysis of lysates from human and rat liver detected a single 165-kDa protein, which by immunofluorescence was present only in hepatocytes and localized predominantly to the trans-Golgi network and exclusively in this compartment under low hepatic copper concentrations. Although hepatic copper concentration had no effect on the steady-state levels of the Wilson’s disease protein, copper administration in vivo resulted in redistribution of this protein to a cytoplasmic vesicular compartment localized toward the hepatocyte canalicular membrane. The relative abundance of the Wilson’s disease protein in the liver was found to be greatest in the fetus before the onset of biliary copper excretion. Taken together, these studies reveal a novel posttranslational mechanism of copper homeostasis in vivo consistent with the proposed function of the Wilson’s disease protein in holoceruloplasmin biosynthesis and biliary copper excretion and of relevance to the broad clinical heterogeneity observed in this disease.

scholarly journals Wilson's disease: the importance of measuring serum caeruloplasmin non-immunologically

2003 ◽  
Vol 40 (2) ◽  
pp. 115-121 ◽  
Author(s):  
J. M. Walshe
Keyword(s):  
Wilson’S Disease ◽  
Liver Function Tests ◽  
Wilson's Disease ◽  
Serum Copper ◽  
Full Blood Count ◽  
Total Serum ◽  
Clotting Factors ◽  
Urinary Copper ◽  
Specialist Centre ◽  
Close Relatives

Wilson's disease should be considered as a possible diagnosis in any child, adolescent or young adult with liver damage without other explanation, especially when haemolysis is present. However, it may also present in adolescents or young adults with neurological signs confined to the motor system. The first diagnostic screening test is the estimation of the serum caeruloplasmin and total serum copper concentrations, with calculation of the serum non-caeruloplasmin-bound ('free') copper. Serum caeruloplasmin, which contains copper, is best determined by measurement of its oxidase activity, as the immunonephelometric method measures both caeruloplasmin and the biologically inactive apo-form. Diagnosis may be confirmed by an elevated urinary copper excretion. All close relatives of an identified patient must be screened and, where doubt persists, investigation of the Wilson's gene at chromosome 13q14.3 can be employed. Lifelong follow-up studies are best conducted in a specialist centre. Compliance with chelating therapy (penicillamine or trientine) or administration of the metal antagonist tetrathiomolybdate or zinc is monitored by determination of the serum 'free' copper, which should be maintained at or near 1·6 µmol/L (10 µg/100 mL). Side-effects of therapy are detected by the estimation of urinary total protein, full blood count and erythrocyte sedimentation rate, clotting factors and liver function tests.

scholarly journals FOUR DIFFERENT PRESENTATIONS OF WILSON’S DISEASE IN ONE FAMILY

2021 ◽  
Vol 71 (4) ◽  
pp. 1498-1500
Author(s):  
Asbah Rahman ◽  
Qudratullah Malik ◽  
Farooq Ikram
Keyword(s):  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Serum Copper ◽  
Screening Tools ◽  
Hereditary Diseases ◽  
Military Hospital ◽  
Normal Limits ◽  
Paternal Uncle ◽  
Urinary Copper ◽  
Missed Diagnosis

Wilson’s disease (WD) is an important differential to consider in any child presenting with hepatic, neurological or ophthalmological manifestations of the disease. We report here 4 individuals of the same family: 2 paediatric and 2 adult patients with a spectrum of manifestations of the disease presenting to Pak Emirates Military Hospital and Combined Military Hospital Rawalpindi, Rawalpindi, from January 2019 and September 2020. The index case had neuro-wilson; the brother was diagnosed preemptively during screening; the father being completely asymptomatic despite markedly raised 24 hours urinary copper levels; and the paternal uncle being diagnosed after many years of manifesting hepatic symptoms. The purpose of this publication is to sensitize the readers to the usage of scoring tools such as the Leipzig score, the importance of regular follow-up and family screening of hereditary diseases. We would also like to highlight the possibility of missed diagnosis with serum Copper levels (S.Copper) which were within normal limits (WNL) in all 4 of our patients; and Serumceruloplasmin (S.ceruloplasmin) levels which were within normal limits in 3\4 of these patients, that are often used as screening tools for WD.

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 Iron metabolism is disturbed and anti-copper treatment improves but does not normalize iron metabolism in Wilson’s disease

BioMetals ◽  
2021 ◽  
Author(s):  
Grażyna Gromadzka ◽  
Diana Wierzbicka ◽  
Tomasz Litwin ◽  
Adam Przybyłkowski
Keyword(s):  
Iron Metabolism ◽  
Wilson’S Disease ◽  
Copper Metabolism ◽  
Wilson's Disease ◽  
Serum Copper ◽  
Control Group ◽  
Serum Ceruloplasmin ◽  
Copper Treatment ◽  
Lower Blood ◽  
Atomic Adsorption Spectroscopy

AbstractWilson’s disease (WD) is a rare hereditary disorder of copper metabolism. Some data suggest that iron metabolism is disturbed in WD and this may affect the course of the disease. The current study aimed to determine whether anti-copper treatment could affect iron metabolism in WD. One hundred thirty-eight WD patients and 102 controls were examined. Serum ceruloplasmin and copper were measured by colorimetric enzyme assay or atomic adsorption spectroscopy, respectively. Routine and non-routine parameters of iron metabolism were measured by standard laboratory methods or enzyme immunoassay, respectively. WD patients, both newly diagnosed and treated, had less serum copper and ceruloplasmin than controls (90.0, 63.0, 22.0 mg/dL, respectively, p < 0.001); in the treated patients blood copper and ceruloplasmin were lower than in untreated patients (p < 0.001). Untreated patients (n = 39) had a higher median blood iron (126.0 vs 103.5 ug/dL, p < 0.05), ferritin (158.9 vs 47.5 ng/mL, p < 0.001), hepcidin (32, 6 vs 12.1 ng/mL, p < 0.001) and sTfR (0.8 vs. 0.7 ug/mL, p < 0.001) and lower blood transferrin (2.4 vs. 2.7 g/L, p < 0.001), TIBC (303.0 vs 338.0 ug/dL, p < 0.001), hemoglobin (13.1 vs 13.9 g/dL, p < 0.01) and RBC (4.3 vs. 4.6, p < 0.002) than controls. Treated patients (n = 99) had a significantly lower median iron (88.0 vs. 126.0 ug/dL, p < 0.001), ferritin (77.0 vs. 158.9 ng/mL, p < 0.005) and hepcidin (16.7 vs. 32.6 ng/mL, p < 001) and higher transferrin (2.8 vs. 2.4 g/L, p < 0.005), TIBC (336.0 vs 303.0 ug/dL, p < 0.001), RBC (4.8 vs. 4.3 M/L, p < 0.001) and hemoglobin (14.4 vs. 13.1 g/dL, p < 0.001) than untreated; the median iron (p < 0.005) was lower, and ferritin (p < 0.005), RBC (p < 0.005) and hepcidin (p < 0.002) were higher in them than in the control group. Changes in copper metabolism are accompanied by changes in iron metabolism in WD. Anti-copper treatment improves but does not normalize iron metabolism.

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.

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.

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