Hostname: page-component-cd9895bd7-8ctnn Total loading time: 0 Render date: 2024-12-23T14:33:12.141Z Has data issue: false hasContentIssue false
  • English
  • Français

Wilson Disease in the South Chinese Han Population

Published online by Cambridge University Press:  23 September 2014

Nan Cheng ,
Kai Wang ,
Wenbin Hu ,
Daoyin Sun ,
Xun Wang ,
Jiyuan Hu ,
Renmin Yang  and
Yongzhu Han
Nan Cheng
Affiliation:
Hospital Affiliated to Institute of Neurology, Anhui College of TCM
Kai Wang
Affiliation:
Department of Neurology, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China
Wenbin Hu
Affiliation:
Hospital Affiliated to Institute of Neurology, Anhui College of TCM
Daoyin Sun
Affiliation:
Hospital Affiliated to Institute of Neurology, Anhui College of TCM
Xun Wang
Affiliation:
Hospital Affiliated to Institute of Neurology, Anhui College of TCM
Jiyuan Hu
Affiliation:
Hospital Affiliated to Institute of Neurology, Anhui College of TCM
Renmin Yang
Affiliation:
Hospital Affiliated to Institute of Neurology, Anhui College of TCM
Yongzhu Han*
Affiliation:
Hospital Affiliated to Institute of Neurology, Anhui College of TCM
*
*Hospital Affiliated to Institute of Neurology, Anhui College of TCM, No. 357 Changjiang Road, Hefei, Anhui, China. Email: [email protected]
Rights & Permissions [Opens in a new window]

Abstract

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.
Purpose:

To prospectively investigate the incidence and prevalence of Wilson disease (WD) in Chinese Han population in Anhui Province, to analyze the genetic mutations in individuals with WD, and to provide basic epidemiological data regarding WD in this Chinese Han population.

Methods:

Between November 2008 and June 2010, individuals aged from 7 to 75 years were screened for the cornea K-F ring in both eyes using slit lamp examination and random sampling methods based on age stratification and cluster level 1. The participants were from Anhui Province's Hanshan County, Jinzhai County, and Lixin County. The clinical manifestations of the brain, liver, kidney, skin, and other organs in each individual were also determined. Individuals with positive K-F rings and clinical manifestations indicative of WD underwent copper biochemistry evaluations, abdominal ultrasound testing, and ATP7B gene mutation screening to confirm or exclude the diagnosis of WD.

Results:

Of 153,370 individuals investigated in this study, nine were diagnosed with WD. In these WD individuals, three cases had neurological symptoms, one has hepatic symptoms, one was hepatic and neurological combined, and the other four cases were presymptomatic. Of the eight individuals in whom genetic mutations were detected, seven individuals had mutations in the ATP7B gene. The other individual had no ATP7B gene mutations but her copper biochemical test results met the diagnostic criteria for WD. The incidence and prevalence of WD in this population were approximately 1.96/100,000 and 5.87/100,000 respectively.

Conclusions:

The Chinese Han population had a higher average prevalence of WD than the populations of the United States or Europe.

Type
Original Article
Information
Canadian Journal of Neurological Sciences , Volume 41 , Issue 3 , May 2014 , pp. 363 - 367
Copyright
Copyright © The Canadian Journal of Neurological 2014

References

1.Ala, A, Walker, AP, Ashkan, K. Wilson's disease. Lancet. 2007 369 397408.Google Scholar
2.Badenas Orquin, C. Advances in the molecular diagnosis of Wilson's disease. Gastroenterol Hepatol. 2011 34(6)42833.Google Scholar
3.Scheinberg, I, Sternlieb, I. Wilson's disease. Major Probl Intern Med. 1984 23 124.Google Scholar
4.Jang, W, Cho, J, Kim, JS. Wilson's disease only presenting with isolated unilateral resting tremor. Can J Neurol Sci. 2011 38 93940.Google Scholar
5.Roberts, EA, Schilsky, ML. Diagnosis and treatment of Wilson disease: an update. Hepatology. 2008 47(6)2089111.Google Scholar
6.Lee, JY, Kim, YH, Kim, TW. New novel mutation of the ATP7B gene in a family with Wilson disease. J Neurol Sci. 2012 313 1–212931.Google Scholar
7.Sinha, S, Christopher, R, Arunodaya, GR. Is low serum tocopherol in Wilson's disease a significant symptom?. J Neurol Sci. 2005 228 1213.Google Scholar
8.Lam, CW, Mak, CM. Allele dropout in PCR-based diagnosis of Wilson disease: mechanisms and solutions. Clin Chemistry. 2006 52 51720.Google Scholar
9.Mak, CM, Lam, CW. Diagnosis of Wilson's disease: a comprehensive review. Crit Rev Clin Lab Sci. 2008 45(3)26390.Google Scholar
10.Chu, EC, Chu, NS, Huang, CC. Autonomic involvement in Wilson's disease: a study of sympathetic skin response and RR interval variation. J Neurol Sci. 1997 149(2)1317.Google Scholar
11.Li, K, Zhang, WM, Lin, S. Mutational analysis of ATP7B in north Chinese patients with Wilson disease. J Hum Genet. 2012 Dec 13.doi: 10.1038/jhg.2012.134.Google Scholar
12.Sinha, S, Christopher, R, Arunodaya, GR. Is low serum tocopherol in Wilson's disease a significant symptom?. J Neurol Sci. 2005 228(2)1213.Google Scholar
13.Danks, DM, Scriver, CR, Beaudet, AL, Sly, WM, Valle, D. Disorders of copper transport. The metabolic and molecular basis of inherited disease. 1995 New YorkMcGraw Hill 221135.Google Scholar
14.Saito, T. An assessment of efficiency in potential screening for Wilson's disease. J Epidemiol Community Health. 1981 35 27480.Google Scholar
15.Seo, JK. Wilson disease: an update. Korean J Hepatol. 2006 12(3)33363.Google Scholar
16.Loudianos, G, Dessi, V, Lovicu, M. Molecular characterization of Wilson disease in the Sardinian population-evidence of a founder effect. Hum Mutat. 1999 14 294303.Google Scholar
17.Dedoussis, GV, Genschel, J, Sialvera, TE. Wilson disease: high prevalence in a mountainous area of Crete. Ann Hum Genet. 2005 69 26874.Google Scholar
18.Li, X, Liang, X, Liu, D. Case analysis of 957 individuals with neurological genetic disease. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1994 11(6)3724.Google Scholar
19.Xu, Y, Fan, Y, Yu, L. Identification of a mutation hotspot in exon 8 of the Wilson disease gene using PCR direct sequencing. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1998 15(5)2847.Google Scholar
20.Cheng, N, Lu, B, Du, Y. Rapid detection of the mutation hotspots in the Wilson disease gene in Chinese individuals. Zhong Feng Yu Shen Jing Ji Bing Za Zhi. 2009 26(4)41417.Google Scholar
21.Mak, CM, Lam, CW, Tam, S. Mutational analysis of 65 Wilson disease individuals in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity. J Hum Genet. 2008 53 5563.Google Scholar
22.Johnson, S. Is Parkinson's disease the heterozygoto form of Wilson's disease: PD=1/2 WD?. Med Hypotheses. 2001 56(2)1713.Google Scholar
23.Ohura, T, Abukawa, D, Shiraishi, H. Pilot study of screening for Wilson disease using dried blood spots obtained from children seen at outindividual clinics. J Inherit Metab Dis. 1999 22 7480.CrossRefGoogle ScholarPubMed
24.Hahn, SH, Lee, SY, Jang, YJ. Pilot study of mass screening for Wilson's disease in Korea. Mol Genet Metab. 2002 76 1336.Google Scholar
25.Scheinberg, I, Sternlieb, I. Wilson's disease. Major Probl Intern Med. 1984 23 124.Google Scholar
26.Litwin, T, Gromadzka, G, Członkowska, A. Gender differences in Wilson's disease. J Neurol Sci. 2012 312 1–2315.Google Scholar