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Pilot study of mass screening for Wilson's disease in Korea.

Hahn, SH; Lee, SY; Jang, YJ; Kim, SN; Shin, HC; Park, SY; Han, HS; Yu, ES; Yoo, HW; Lee, JS; Chung, CS; Lee, DH
Molecular genetics and metabolism, 76(2):133-136, 2002
Journal Title
Molecular genetics and metabolism
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.
MeSH terms
AdolescentCeruloplasmin/analysisChildChild, PreschoolEnzyme-Linked Immunosorbent AssayFemaleHepatolenticular Degeneration/blood/*diagnosis/epidemiology/geneticsHumansInfantKorea/epidemiologyMaleMass ScreeningPilot Projects
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Pediatrics & Adolescent Medicine
Journal Papers > School of Medicine / Graduate School of Medicine > Preventive Medicine & Public Health
AJOU Authors
이, 수영장, 재연김, 순남
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