Diagnostic Value of Quantitative Hepatic Copper Determination in Patients With Wilson’s Disease

Ferenci, Péter; Steindl–Munda, Petra; Vogel, Wolfgang; Jessner, Wolfgang; Gschwantler, Michael; Stauber, Rudolf; Datz, Christian; Hackl, Franz; Wrba, Fritz; Bauer, Péter; Lorenz, Oskar

doi:10.1016/s1542-3565(05)00181-3

Cited by 216 publications

(150 citation statements)

References 31 publications

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“…Only 2 of 30 WD patients (7%) had a liver copper level < 75 lg/g of dry weight, which has been proposed as a novel diagnostic threshold 19 ; the remaining 28 had values > 250 lg/g of dry weight. Liver copper levels in WD patients did not directly correlate with the severity of the histological picture (data not shown) or the age at liver biopsy (r ¼ 0.38, P ¼ 0.03).…”

Section: Resultsmentioning

confidence: 99%

Re-evaluation of the diagnostic criteria for Wilson disease in children with mild liver disease

et al. 2010

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The diagnosis of Wilson disease (WD) is challenging, especially in children. Early detection is desirable in order to avoid dramatic disease progression. The aim of our study was to re-evaluate in WD children with mild liver disease the conventional diagnostic criteria and the WD scoring system proposed by an international consensus in 2001. Forty children with WD (26 boys and 14 girls, age range 5 1.1-20.9 years) and 58 age-matched and sex-matched patients with a liver disease other than WD were evaluated. Both groups were symptom-free and had elevated aminotransferases as predominant signs of liver disease. In all WD patients, the diagnosis was supported by molecular analysis, the liver copper content, or both. A receiver operating characteristic (ROC) analysis of ceruloplasmin at the cutoff value of 20 mg/dL showed a sensitivity of 95% [95% confidence interval (CI) 5 83%-99.4%] and a specificity of 84.5% (95% CI 5 72.6%-92.6%). The optimal basal urinary copper diagnostic cutoff value was found to be 40 lg/24 hours (sensitivity 5 78.9%, 95% CI 5 62.7%-90.4%; specificity 5 87.9%, 95% CI 5 76.7%-95%). Urinary copper values after penicillamine challenge did not significantly differ between WD patients and control subjects, and the ROC analysis showed a sensitivity of only 12%. The WD scoring system was proved to have positive and negative predictive values of 93% and 91.6%, respectively. Conclusion: Urinary copper excretion greater than 40 lg/24 hours is suggestive of WD in asymptomatic children, whereas the penicillamine challenge test does not have a diagnostic role in this subset of patients. The WD scoring system provides good diagnostic accuracy. (HEPATOLOGY 2010;52:1948-1956 See Editorial on Page 1872 W ilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by mutations in a gene [ATPase, Cuþþ transporting, beta polypeptide (ATP7B)] encoding a copper-transporting, P-type ATPase.1 This disease leads to progressive copper accumulation in the liver and subsequent deposition in other organs, such as the nervous system, corneas, kidneys, bones, and joints. The distribution of the metal in diverse organs over time accounts for the wide range of clinical manifestations. 2 In the pediatric age bracket, most cases have a hepatic presentation. In the available series, the percentage of WD children presenting with isolated elevated serum aminotransferases ranges from 14% to 88%; this depends on the health policy and the type of health care provided.3-5 However, there is evidence that alterations in liver function tests may precede the onset of symptoms for a considerable time. Neurological symptoms are more frequent in adolescents and young adults [6][7][8] and are found in only 4% to 6% of pediatric cases with hepatic onset. 4,5,9 If WD is not recognized and adequately treated, the progression of hepatic and neurological damage can be very rapid, and fulminant liver failure can occur. Therefore, the prompt detection of this condition is vital. Unfortunately, the diagnosis of WD is an especi...

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Section: Resultsmentioning

confidence: 99%

Re-evaluation of the diagnostic criteria for Wilson disease in children with mild liver disease

et al. 2010

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“…Aim of treatment in Wilson's disease is to achieve normal copper levels in the body in the shortest possible time and to maintain this. Of the drugs used to treat Wilson's disease, penicillamine and trientine mainly act by increasing cupriuresis, while oral zinc mainly acts by inhibiting copper absorption from the intestine 16 . The commonly recommended regime is initial treatment with copper chelators like penicillamine or trientine to normalise copper levels in the body, followed by maintenance treatment with lower dose of copper chelators or zinc.…”

Section: Discussionmentioning

confidence: 99%

A Case of Wilsons Disease Presenting as Chronic Liver Disease

Nayeem¹,

Bulbul

Zabeen³

et al. 2016

Bangladesh J Med Sci

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Abstract:Wilson's disease is one of the most common inherited liver diseases with a worldwide incidence of 10-30 million cases. The increased frequency in certain countries is due to high rates of consanguinity and the fulminant presentation of the disease is more common in females than in males. It is an autosomal-recessive disorder caused by mutation in the ATP7B gene, with resultant impairment of biliary excretion of copper. Subsequent copper accumulation, first in the liver but later on in the brain and other tissues, produces clinical manifestations that may include hepatic, neurological, psychiatric, ophthalmological and other derangements. Genetic testing is impractical because of the multitude of mutations that have been identified, so accurate diagnosis relies on judicious use of laboratory and other diagnostic tests. Lifelong palliative treatment with a different combination of medications, or with liver transplantation if needed, can successfully ameliorate or prevent the progressive deterioration of the disease, otherwise death would inevitably ensue. Since effective treatment is available for this disease, early and correct diagnosis is very important. Here, we report a case of Wilson's disease in a 15-year-old girl presenting to us as chronic liver disease.

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“…Adults tend to show cirrhosis, and Mallory bodies*. In adolescents or adults, confluent necrosis may lead to a severe hepatic failure that may require an urgent liver transplant [40].…”

Section: The Role Of Liver Biopsy In Determining the Diagnosis Of Wilmentioning

confidence: 99%

Rethinking the Role of Liver Biopsy in the Era of Personalized Medicine

Taltavull¹

2012

Liver Biopsy - Indications, Procedures, Results

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Diagnostic Value of Quantitative Hepatic Copper Determination in Patients With Wilson’s Disease

Cited by 216 publications

References 31 publications

Re-evaluation of the diagnostic criteria for Wilson disease in children with mild liver disease

Re-evaluation of the diagnostic criteria for Wilson disease in children with mild liver disease

A Case of Wilsons Disease Presenting as Chronic Liver Disease

Rethinking the Role of Liver Biopsy in the Era of Personalized Medicine

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Diagnostic Value of Quantitative Hepatic Copper Determination in Patients With Wilson’s Disease

Cited by 216 publications

References 31 publications

Re-evaluation of the diagnostic criteria for Wilson disease in children with mild liver disease

Re-evaluation of the diagnostic criteria for Wilson disease in children with mild liver disease

A Case of Wilsons Disease Presenting as Chronic Liver Disease

Rethinking the Role of Liver Biopsy in the Era of Personalized Medicine

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Product

Resources

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A Case of Wilsons Disease Presenting as Chronic Liver Disease