title: Pilot study of mass screening for Wilson's disease in Korea.
abstract: Wilson's disease (WD) is an autosomal recessive disorder of copper metabolism with copper accumulation in the liver as well as in the central nervous system. Treatment of WD includes oral chelating agents and diet and it is effective. However, once irreversible damage has occurred, the effect of treatment is diminished and the patient's quality of life is compromised. It is estimated that at least half of the patients with WD remain undiagnosed and die of untreated disease. Early detection of patients presymptomatically has been hampered by the lack of effective methods for mass screening. Recently, a sandwich ELISA method for ceruloplasmin measurement in blood spots was developed. We have used this method to analyze blood specimens collected on filter paper from 3667 children aged 3 months-15 years. The mean value of ceruloplasmin was 30.5+/-9.5 mg/dL. Among these children, we identified one WD case, a 32-month-old boy with markedly reduced ceruloplasmin concentration (2.3 mg/dL). Measurement of CP level in dried blood spot sample is proposed as a reliable method for population screening of WD.
authors.affiliation: Department of Pediatrics, Ajou University School of Medicine, Suwon, Republic of Korea. hahn.sihoun@mayo.edu
authors.forename: Si Houn
authors.initials: SH
authors.lastname: Hahn
authors.forename: Soo Young
authors.initials: SY
authors.lastname: Lee
authors.forename: Young-Ju
authors.initials: YJ
authors.lastname: Jang
authors.forename: Soon Nam
authors.initials: SN
authors.lastname: Kim
authors.forename: Ha Cheol
authors.initials: HC
authors.lastname: Shin
authors.forename: Sun Young
authors.initials: SY
authors.lastname: Park
authors.forename: Hee Sung
authors.initials: HS
authors.lastname: Han
authors.forename: Eun Sun
authors.initials: ES
authors.lastname: Yu
authors.forename: Han Wook
authors.initials: HW
authors.lastname: Yoo
authors.forename: Jin Sung
authors.initials: JS
authors.lastname: Lee
authors.forename: Chun Soon
authors.initials: CS
authors.lastname: Chung
authors.forename: San Yeon
authors.initials: SY
authors.lastname: Lee
authors.forename: Dong Hwan
authors.initials: DH
authors.lastname: Lee
mesh_terms: D000293:Adolescent; D002570:Ceruloplasmin / Q000032:analysis; D002648:Child; D002675:Child, Preschool; D004797:Enzyme-Linked Immunosorbent Assay; D005260:Female; D006527:Hepatolenticular Degeneration / Q000097:blood / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D007223:Infant; D007723:Korea / Q000453:epidemiology; D008297:Male; D008403:Mass Screening; D010865:Pilot Projects
chemical_list: D002570:Ceruloplasmin