Wilson Disease: Diagnostic Dilemmas?

Iorio, Raffaele; Porzio, Salvatore; Mazzarella, Gianfranco; Fusco, Giuseppina; Vegnente, Angela

doi:10.1097/00005176-200007000-00023

Cited by 11 publications

(14 citation statements)

References 2 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Seven of 13 asymptomatic patients did not reach the diagnostic threshold, confirming the lack of sensitivity of this test for excluding the diagnosis in children. This is in line with other reports suggesting that a negative PCT in pre-or asymptomatic patients may not exclude a diagnosis of WD [18]. Factors affecting the results of this testing may include the uncertainty in obtaining complete 24 h urine collections, particularly in young children, which may result in an underestimate with false negative results as we observed in 2/25 patients with active liver disease.…”

Section: Discussionsupporting

confidence: 91%

Re-evaluation of the penicillamine challenge test in the diagnosis of Wilson’s disease in children

Müller

Koppikar

Taylor

et al. 2007

Journal of Hepatology

102

View full text Add to dashboard Cite

Section: Discussionsupporting

confidence: 91%

Re-evaluation of the penicillamine challenge test in the diagnosis of Wilson’s disease in children

Müller

Koppikar

Taylor

et al. 2007

Journal of Hepatology

102

View full text Add to dashboard Cite

“…A useful test in case of uncertain diagnosis of WD is urine copper concentration after penicillamine challenge. Despite a described cut-off value of 1590 lg/24 h in WD patients [9], many patients with documented WD and most of WD children show lower urine copper values [10]. The outcome of WD patients after drug therapy also shows intriguing differences: we described a subgroup of children with WD-related liver disease who did not respond to treatment in terms of normalization of aminotransferases [11].…”

Section: Introductionmentioning

confidence: 85%

“…Patients were analyzed for 12 exons [5,6,8,10,[12][13][14][15][16][17][18][19], where most mutations reside on the basis of our previous studies using SSCP and sequencing methods. DNA samples not completely characterized by the first step of analysis or those found to have a new missense mutation, were further analyzed for the remaining exons of the ATP7B gene, by SSCP and sequencing analysis [17].…”

Section: Mutation Analysismentioning

confidence: 99%

Genotype–phenotype correlation in Italian children with Wilson’s disease

Nicastro

Loudianos

Zancan

et al. 2009

Journal of Hepatology

Self Cite

View full text Add to dashboard Cite

“…Unfortunately, the diagnosis of WD is an especially challenging task in children because the conventional criteria established for adults are not always appropriate for children. 10 In particular, basal urinary copper excretion in most WD children is lower than the extensively accepted cutoff value of 100 lg/24 hours. 10 Additionally, the diagnostic accuracy of daily urinary copper measurements after chelation with penicillamine remains questionable.…”

mentioning

confidence: 97%

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

et al. 2010

Self Cite

View full text Add to dashboard Cite

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...

show abstract

Wilson Disease: Diagnostic Dilemmas?

Cited by 11 publications

References 2 publications

Re-evaluation of the penicillamine challenge test in the diagnosis of Wilson’s disease in children

Re-evaluation of the penicillamine challenge test in the diagnosis of Wilson’s disease in children

Genotype–phenotype correlation in Italian children with Wilson’s disease

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

Contact Info

Product

Resources

About