Long-term outcome in Serbian patients with Wilson disease

Svetel, Marina; Gazibara, Tatjana; Petrović, Igor; Tomić, Aleksandra; Kresojević, Nikola; Jesic, Rada; Kazic, Slobodan; Raicević, R; Stefanovic, Dejan; Delibašić, N.; Živanović, Dubravka; Đorđević, Mirjana; Kostić, Vladimir

doi:10.1111/j.1468-1331.2009.02607.x

Cited by 44 publications

(45 citation statements)

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“…The present study has highlighted different peculiarities of these patients with respect to WD children reported elsewhere. [6][7][8][9]13 The measurement of ceruloplasmin serum levels is also a first-step test for the diagnosis of WD in children with mild liver disease, as demonstrated by the good sensitivity and acceptable specificity of this test at the cutoff of 20 mg/dL in the studied population. Obviously, low levels of ceruloplasmin are not always indicative of a copper storage disorder because both heterozygotes for WD and patients with other disorders may share this feature.…”

Section: Discussionmentioning

confidence: 99%

“…3,[6][7][8][9]13 In fact, all the WD patients evaluated in the present study were referred for raised aminotransferases and could be considered asymptomatic or presymptomatic. Therefore, this population represents a valuable specimen for assessing the appropriateness of the WD diagnostic criteria in children with mild liver disease.…”

Section: Discussionmentioning

confidence: 99%

“…[3][4][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.…”

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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: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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confidence: 99%

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

et al. 2010

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“…The risk of death in WD patients treated by LT is an important issue, particularly since several long-term follow-up studies of WD patients subjected to medical treatment have revealed a survival rate quite similar to that of the healthy population except in cases with advanced liver cirrhosis [27][28][29][30] . The high death rate in case reports of LT in WD patients with neurological impairment is worrying (5 of 21 cases).…”

Section: Previous Literature On Lt In Neurologically-impaired Wd Patimentioning

confidence: 99%

Liver Transplantation in Wilson's Disease with Neurological Impairment: Evaluation in 4 Patients

Laurencin¹,

Brunet

Dumortier

et al. 2016

Eur Neurol

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Background: The aim of this work is to report our early experiences about the benefits of liver transplantation (LT) in the treatment of persistent neurological symptoms in Wilson's disease (WD) patients. Methods: We describe our findings in 4 WD patients with neurological impairment or symptoms treated by LT: 2 patients had transplants due to worsening of neurological symptoms despite long-term appropriate medical treatment. The other 2 required LT because of symptoms associated with liver failure. Patients were evaluated using the modified Rankin scale and the Unified Wilson's Disease Rating Scale (UWDRS). Results: The 4 patients experienced neurological improvement after LT. The pre-LT Rankin score of the 2 patients transplanted due to neurological impairment was 4 compared to 3 and 2, respectively, post LT. The pre-LT Rankin scores of the 2 WD cases transplanted because of hepatic failure were 1 and 2, respectively, compared to 0 in both cases post LT. UWDRS score improved in 2 cases and remained stable in 1 less severely impaired case. Brain MRI abnormalities proved partially reversible in 3 patients and remained stable for 1 patient. Conclusions: These results suggest that LT could be envisaged for neurologically impaired WD patients.

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“…Another problem is suicide as described Tatsumi et al (11). Suicide may be one of the psychiatric problems due to depression, decreased functional capacity, hopelessness or the need of long-term treatment (16 …”

Section: Wilson Disease Is An Autosomal Recessive Disorder Characterimentioning

confidence: 99%

Wilson Disease and Its Current Problems

Harada

2010

Intern. Med.

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Long-term outcome in Serbian patients with Wilson disease

Abstract: Despite the relatively early diagnosis and treatment of our patients with WD, mortality was still considerably high.

Cited by 44 publications

References 23 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

Liver Transplantation in Wilson's Disease with Neurological Impairment: Evaluation in 4 Patients

Wilson Disease and Its Current Problems

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