Screening for Wilson's disease in patients with liver diseases by serum ceruloplasmin

1997 ◽  
Vol 27 (2) ◽  
pp. 358-362 ◽  
Author(s):  
Edmund Cauza ◽  
Theresia Maier-Dobersberger ◽  
Claudia Polli ◽  
Klaus Kaserer ◽  
Ludwig Kramer ◽  
...  
Keyword(s):  
Liver Diseases ◽  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Serum Ceruloplasmin

Suspected Wilson's Disease Presenting with Normal Serum Ceruloplasmin Levels

2017 ◽  
Vol 09 (01) ◽  
Author(s):  
Atul Singh Rajput ◽  
Gunjan Singh Dalal ◽  
Jyoti Jain
Keyword(s):  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Normal Serum ◽  
Serum Ceruloplasmin

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.

scholarly journals Bipolar Disorder and Wilson’s Disease: A Case Report

2015 ◽  
Vol 3 (2) ◽  
pp. 50-52 ◽  
Author(s):  
S Bhagat ◽  
H Nepal ◽  
A K Verma
Keyword(s):  
Bipolar Disorder ◽  
Case Report ◽  
Wilson’S Disease ◽  
Bipolar Depression ◽  
Wilson's Disease ◽  
Serum Ceruloplasmin ◽  
Urinary Copper ◽  
Low Serum

Wilson’s disease is an uncommon inherited disorder characterized by low serum ceruloplasmin levels, hypercupriuria and Kayser-Fleischer rings. Here we describe the case of a young boy who presented with symptoms of bipolar depression along with bilateral hand tremors. He was started with Quetiapine but symptoms did not improve. Investigations revealed cirrhotic changes of liver, low serum ceruloplasmin levels, presence of Kayser-Fleischer rings. The diagnosis of Wilson’s disease was confirmed by high 24hr. urinary copper levels. Bipolar symptoms improved after 7 months of initiation of oral penicillamine treatment.J Psychiatric Association of Nepal Vol .3, No.2, 2014, pp: 50-52DOI: http://dx.doi.org/10.3126/jpan.v3i2.12399

scholarly journals Wilson’s Disease in an Elderly Patient

1995 ◽  
Vol 9 (2) ◽  
pp. 78-80 ◽  
Author(s):  
Maziar Badii ◽  
Henry Wong ◽  
Urs P Steinbrecher ◽  
Hugh J Freeman
Keyword(s):  
Elderly Patient ◽  
Liver Disease ◽  
Chronic Liver Disease ◽  
Wilson’S Disease ◽  
The Elderly ◽  
Wilson's Disease ◽  
Chronic Liver ◽  
Elderly Age ◽  
Serum Ceruloplasmin ◽  
Ceruloplasmin Level

A 65-year-old man with Fanconi’s syndrome was investigated for the cause of chronic liver disease. Wilson’s disease was diagnosed based on the detection of bilateral Kayser-Fleischer rings, a low serum ceruloplasmin level, increased urine copper excretion and positive histochemical stains of his liver for copper. This case is unusual because of the patient’s elderly age at the time of diagnosis and the absence of neurological changes due to Wilson’s disease in spite of advanced hepatic disease and the presence of Kayser-Fleischer rings. Even in the elderly patient, Wilson’s disease should be considered a possible cause of chronic liver disease.

Wilson's Disease-like Lesion in a Calf

1995 ◽  
Vol 32 (5) ◽  
pp. 538-539 ◽  
Author(s):  
Y. Wada ◽  
W. Kajiwara ◽  
K. Kato
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Dry Matter ◽  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Spongy Degeneration ◽  
Serum Ceruloplasmin ◽  
The Central Nervous System

Wilson's disease-like lesion was seen in a 2-month-old calf. Fibrosis was apparent in the liver, but there was no cholestasis or icterus. Marked spongy degeneration was seen in the central nervous system. Hepatic and brain copper values were significantly higher than normal: 1970 and 113 ppm dry matter, respectively. Serum ceruloplasmin was lower than normal: 17.5 U/liter. Etiology of this disease was unknown, but there is no evidence that the calf ingested a large quantity of 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.

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