Pilot study of mass screening for Wilson's disease in Korea.
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.
Hahn
Si Houn
SH
Department of Pediatrics, Ajou University School of Medicine, Suwon, Republic of Korea. hahn.sihoun@mayo.edu
Lee
Soo Young
SY
Jang
Young-Ju
YJ
Kim
Soon Nam
SN
Shin
Ha Cheol
HC
Park
Sun Young
SY
Han
Hee Sung
HS
Yu
Eun Sun
ES
Yoo
Han Wook
HW
Lee
Jin Sung
JS
Chung
Chun Soon
CS
Lee
San Yeon
SY
Lee
Dong Hwan
DH
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
D002570:Ceruloplasmin