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Development of a Screening Kit for Early Diagnosis and Prevention of Wilson´s Disease

Other Title
윌슨병의 조기진단을 위한 선별검사(Screening)법 개발
한, 시훈; 이, 수영; 장, 영주; 김, 순남; 신, 하철; 박, 선영; 강, 주형
Soakwa, 44(12):1374-1380, 2001
Journal Title
Soakwa; Journal of the Korean Pediatric Association; Journal of the Korean Academy of Pediatrics; Journal of the Korean Pediatric Society; 소아과
Purpose : Wilson´s disease is an autosomal recessive disorder characterized by copper accumulation in the liver, brain, and other organs due to defected copper metabolism. The incidence of Wilson´s disease is approximately one in 30,000 population in the world, more common than phenylketonuria in Korea. The early diagnosis or presymptomatic diagnosis of Wilson´s disease is critical in order for them to live a normal life. However, unfortunately, there are no commercial kits available for Wilson´s disease screening in the world yet.

Methods : We developed a mass-screening kit for the purpose of early diagnosis and prevention of Wilson´s disease using sandwich ELISA method. This kit can handle a large number of samples at the same time by using filter paper as in newborn screening. Using the polyclonal or monoclonal anti-ceruloplasmin antibodies, this kit determines the plasma ceruloplasmin levels-one of the main markers for Wilson´s disease.

Results : The plasma levels of the ceruloplasmin were considerably lower in the Wilson´s disease (4.5±1.6 mg/dL) group compared to normal controls(22.1±1.4 mg/dL), sufficient to be used for mass screening. In addition, the results using this screening kit showed 100% positive and negative concordance rates with the test results obtained from immuno-turbidimetry analysis which is the currently used in most test centers for ceruloplasmin measurement in the serum or plasma after centrifugation.

Conclusion : Taken together, we successfully developed a screening kit which is very effective for the early diagnosis and prevention of Wilson´s disease. By using simple filter paper method for sample collection, this kit provides suitable mass screening. We suggest the screening for Wilson´s disease at the age of 3-5 years.
ScreeningWilson diseaseELISACeruloplasminFilter paper
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Journal Papers > School of Medicine / Graduate School of Medicine > Pediatrics & Adolescent Medicine
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