Wilson Disease: Clinical Presentation, Treatment, and Survival

Stremmel, Wolfgang; Meyerrose, Karl-Wilhelm; Niederau, Claus; Hefter, Harald; Kreuzpaintner, G.; Strohmeyer, G

doi:10.7326/0003-4819-115-9-720

Cited by 283 publications

(175 citation statements)

References 23 publications

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“…Ataxia related with involvement of the cerebellar system may be observed in patients with WD (2,4,10). In this study, ataxia was present in two (16.7%) of the patients.…”

Section: Discussionmentioning

confidence: 73%

“…Kayser-Fleischer ring is observed less frequently in children compared to adult patients (2,4). This ring is observed more frequently in patients with neurological findings compared to patients with hepatic findings (2,4,10). Development of this ring is primarily related with the time passed from the onset of accumulation of copper in tissues.…”

Section: Discussionmentioning

confidence: 87%

“…D-penicillamine is substantially efficient because it causes to a negative copper balance by increasing urinary copper excretion (2-4, 9-11). However, it may worsen the neurological picture in initial treatment in patients with neurological involvement (2,4,(9)(10)(11). Zinc has been shown to decrease the level of metallothionein in the small intestines and to be substantially efficient in treatment of WD by preventing copper from entering into the circulatory system (2, 4, 9-11).…”

Section: Discussionmentioning

confidence: 99%

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Neurological features and management of Wilson disease in children: an evaluation of 12 cases

et al. 2016

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Aim: Wilson's disease is an autosomal recessive disorder of copper metabolism which leads to copper overload in different tissues of the body. The aim of this study was to present the neurologic features of Wilson's disease and to assess the clinical course of neurological findings in children receiving anti-copper treatment. Material and Methods: Twelve children with a diagnosis of Wilson's disease and findings of central nervous system involvement who were followed up in the Department of Pediatric Neurology and Pediatric Gastroenterology of the School of Medicine at Erciyes University were enrolled in the study. Results: The study cases consisted of five boys (42%) and seven girls (58%). The mean age at the time of diagnosis was 9.9±3.4 years (5-15 years). The mean duration of follow-up was 49.0±36.4 months (15-128 months). Neurological findings at presentation included headache in seven cases (58%), tremor in seven cases (58%), dystonia in three cases (25%), ataxia in two cases (17%), dizziness in two cases (17%), numbness in the hands and acute weakness in one case (8%) and syncope in one case (8%). Headache, dizziness, syncope, numbness in hands and acute weakness symptoms resolved completely within six months after receiving treatment. Movement disorders either decreased or remained stable in seven of the eight cases. However, one patient developed progressively worsening dystonia despite to all treatments. Conclusions: Wilson's disease can be manifested with signs and symptoms of central nervous system in the childhood. Wilson's disease should be considered in all children presenting with movement disorders. A complete neurological assessment should be carried out in all cases with Wilson's disease. (Turk Pediatri Ars 2016; 51: 15-21)

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“…Ataxia related with involvement of the cerebellar system may be observed in patients with WD (2,4,10). In this study, ataxia was present in two (16.7%) of the patients.…”

Section: Discussionmentioning

confidence: 73%

Section: Discussionmentioning

confidence: 87%

Section: Discussionmentioning

confidence: 99%

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Neurological features and management of Wilson disease in children: an evaluation of 12 cases

et al. 2016

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“…Based on these properties of Zinc, It has been evaluated in a varieties of chronic liver disease with inconsistent results [20][21][22]. In this article we report the results of treatment with Zinc as a salvage therapy in addition to conservative ICU care and its usage as a bridge until definite diagnosis and management of acute liver failure if any at all.…”

Section: Introductionmentioning

confidence: 99%

Zinc as a Rescue Therapy for Acute Liver Failure: Report of 3 Cases

Alavinejad¹

2015

GHOA

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“…In Wilson disease, serum ceruloplasmin level is low (90 % of cases) [5], 24 h urinary copper excretion is elevated (usually [100 lg/day) [6] along with increased copper level per gram of dry weight of liver tissue ([250 lg/gm) [7]. Though total serum copper level decreases as copper is mostly bound to ceruloplasmin, there is increased ''free non-ceruloplasmin copper'' in serum as well as in tissues [8].…”

Section: Introductionmentioning

confidence: 99%

Effect of Copper on l-Cysteine/l-Cystine Influx in Normal Human Erythrocytes and Erythrocytes of Wilson’s Disease

et al. 2016

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Wilson's disease is a disease of abnormal copper metabolism in which free serum copper level is raised. The objective of the study was to determine, whether in Wilson disease, L-cysteine/L-cystine influx into RBC was decreased or not and the specific amino acid transporter affected by copper in normal human RBC. For L-cysteine/L-cystine influx, ten untreated cases, ten treated cases and ten age and sex matched healthy controls were recruited. To study the effect of copper on L-cysteine/Lcystine influx in RBC, 15 healthy subjects were selected. RBC GSH and L-cysteine/L-cystine influx were estimated by Beautler's and Yildiz's method respectively. In untreated cases, L-cysteine/L-cystine influx and erythrocyte GSH level were decreased showing that elevated level of free copper in serum or media decreased L-cysteine/Lcystine influx in human RBC. Copper treatment inhibited L amino acid transporter in normal RBC specifically.

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Wilson Disease: Clinical Presentation, Treatment, and Survival

Abstract: Our results suggest that long-term treatment of patients with Wilson disease with D-penicillamine can relieve symptoms and improve prognosis.

Cited by 283 publications

References 23 publications

Neurological features and management of Wilson disease in children: an evaluation of 12 cases

Neurological features and management of Wilson disease in children: an evaluation of 12 cases

Zinc as a Rescue Therapy for Acute Liver Failure: Report of 3 Cases

Effect of Copper on l-Cysteine/l-Cystine Influx in Normal Human Erythrocytes and Erythrocytes of Wilson’s Disease

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