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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]
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Abstract

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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

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