Clinical Features and Therapeutic Response in Taiwanese Children With Wilson's Disease: 12 Years of Experience in a Single Center

Wilson's disease (WD) is an autosomal recessive defect of cellular copper export. Early diagnosis in children is difficult due to its obscure clinical presentations. The efficacy of zinc salts is well documented, although there are limited data concerning zinc use in pediatric patients with WD....

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Main Authors: Li-Ching Wang, Jiaan-Der Wang, Chi-Ren Tsai, Shao-Bin Cheng, Chieh-Chung Lin
Format: Article
Language:English
Published: Elsevier 2010-04-01
Series:Pediatrics and Neonatology
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S1875957210600228
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spelling doaj-a084669478bd49bf91503b8091927b602020-11-24T22:20:44ZengElsevierPediatrics and Neonatology1875-95722010-04-0151212412910.1016/S1875-9572(10)60022-8Clinical Features and Therapeutic Response in Taiwanese Children With Wilson's Disease: 12 Years of Experience in a Single CenterLi-Ching Wang0Jiaan-Der Wang1Chi-Ren Tsai2Shao-Bin Cheng3Chieh-Chung Lin4Division of Pediatric Gastroenterology and Hepatology, Department of Pediatrics, Taichung Veterans General Hospital, Taichung, TaiwanDivision of Pediatric Gastroenterology and Hepatology, Department of Pediatrics, Taichung Veterans General Hospital, Taichung, TaiwanDivision of Pediatric Gastroenterology and Hepatology, Department of Pediatrics, Taichung Veterans General Hospital, Taichung, TaiwanLiver Transplant Center, Taichung Veterans General Hospital, Taichung, TaiwanDivision of Pediatric Gastroenterology and Hepatology, Department of Pediatrics, Taichung Veterans General Hospital, Taichung, TaiwanWilson's disease (WD) is an autosomal recessive defect of cellular copper export. Early diagnosis in children is difficult due to its obscure clinical presentations. The efficacy of zinc salts is well documented, although there are limited data concerning zinc use in pediatric patients with WD. Methods: We performed a retrospective analysis of clinical features, laboratory results and treatment responses in children with WD diagnosed at Taichung Veterans General Hospital between 1996 and 2008. Diagnosis was established by low serum ceruloplasmin, high 24-hour urinary copper excretion, presence of Kayser-Fleischer rings, and mutation analysis. Results: Eleven children were included in this study. The main initial presentations were impaired liver function tests (6/11) and hemolytic anemia (2/11). Gene studies in seven children showed six different mutations (G934D, R778Q, C490X, 304insC, IVS4-1 G > C, P992I) and one possible novel mutation (L1181P). All patients had improved liver function tests and hemoglobin levels after treatment with D-penicillamine, trientine and zinc supplement therapy. During a mean period of 3.4 ± 2.1 years with zinc therapy, six patients had serum zinc levels above the normal limit, and seven patients had serum copper levels below the normal range. Conclusion: Serum ceruloplasmin and 24-hour urinary copper examinations could be used to rule out WD in children with chronic hepatitis and hemolytic anemia. Gene analysis is helpful for prompt diagnosis of asymptomatic siblings and patients with atypical features. Zinc treatment is generally safe in pediatric patients with WD. However, its adverse effects should be monitored.http://www.sciencedirect.com/science/article/pii/S1875957210600228childtherapyWilson's disease
collection DOAJ
language English
format Article
sources DOAJ
author Li-Ching Wang
Jiaan-Der Wang
Chi-Ren Tsai
Shao-Bin Cheng
Chieh-Chung Lin
spellingShingle Li-Ching Wang
Jiaan-Der Wang
Chi-Ren Tsai
Shao-Bin Cheng
Chieh-Chung Lin
Clinical Features and Therapeutic Response in Taiwanese Children With Wilson's Disease: 12 Years of Experience in a Single Center
Pediatrics and Neonatology
child
therapy
Wilson's disease
author_facet Li-Ching Wang
Jiaan-Der Wang
Chi-Ren Tsai
Shao-Bin Cheng
Chieh-Chung Lin
author_sort Li-Ching Wang
title Clinical Features and Therapeutic Response in Taiwanese Children With Wilson's Disease: 12 Years of Experience in a Single Center
title_short Clinical Features and Therapeutic Response in Taiwanese Children With Wilson's Disease: 12 Years of Experience in a Single Center
title_full Clinical Features and Therapeutic Response in Taiwanese Children With Wilson's Disease: 12 Years of Experience in a Single Center
title_fullStr Clinical Features and Therapeutic Response in Taiwanese Children With Wilson's Disease: 12 Years of Experience in a Single Center
title_full_unstemmed Clinical Features and Therapeutic Response in Taiwanese Children With Wilson's Disease: 12 Years of Experience in a Single Center
title_sort clinical features and therapeutic response in taiwanese children with wilson's disease: 12 years of experience in a single center
publisher Elsevier
series Pediatrics and Neonatology
issn 1875-9572
publishDate 2010-04-01
description Wilson's disease (WD) is an autosomal recessive defect of cellular copper export. Early diagnosis in children is difficult due to its obscure clinical presentations. The efficacy of zinc salts is well documented, although there are limited data concerning zinc use in pediatric patients with WD. Methods: We performed a retrospective analysis of clinical features, laboratory results and treatment responses in children with WD diagnosed at Taichung Veterans General Hospital between 1996 and 2008. Diagnosis was established by low serum ceruloplasmin, high 24-hour urinary copper excretion, presence of Kayser-Fleischer rings, and mutation analysis. Results: Eleven children were included in this study. The main initial presentations were impaired liver function tests (6/11) and hemolytic anemia (2/11). Gene studies in seven children showed six different mutations (G934D, R778Q, C490X, 304insC, IVS4-1 G > C, P992I) and one possible novel mutation (L1181P). All patients had improved liver function tests and hemoglobin levels after treatment with D-penicillamine, trientine and zinc supplement therapy. During a mean period of 3.4 ± 2.1 years with zinc therapy, six patients had serum zinc levels above the normal limit, and seven patients had serum copper levels below the normal range. Conclusion: Serum ceruloplasmin and 24-hour urinary copper examinations could be used to rule out WD in children with chronic hepatitis and hemolytic anemia. Gene analysis is helpful for prompt diagnosis of asymptomatic siblings and patients with atypical features. Zinc treatment is generally safe in pediatric patients with WD. However, its adverse effects should be monitored.
topic child
therapy
Wilson's disease
url http://www.sciencedirect.com/science/article/pii/S1875957210600228
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