| Development of a Screening Kit for Early Diagnosis and Prevention of Wilson`s Disease |
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Sihoun Hahn1, Soo-Young Lee1, Young-Ju Jang2, Soon-Nam Kim1, Ha-Cheol Shin3, Sun-Young Park3, Joo-Hyoung Kang1, Eun-Sun You3 |
1Department of Pediatrics, Ajou University School of Medicine, Suwon, Korea
2Department of Pediatrics, Ajou University School of Medicine, Suwon, Korea
3ZenoVac, Co., Suwon, Korea |
| 윌슨병의 조기진단을 위한 선별검사(Screening)법 개발 |
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한시훈1, 이수영1, 장영주2, 김순남1, 신하철3, 박선영3, 강주형1, 유은선3 |
1아주대학교 의과대학 소아과학교실
2아주대학교 의과대학 면역학교실
3제노백(주) |
Correspondence:
Sihoun Hahn, Email: omik@madang.ajou.ac.kr
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| Abstract |
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¡¾1.6 mg/dL) group compared to normal controls(22.1¡¾1.4 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. |
| Key Words:
Screening, Wilson disease, ELISA, Ceruloplasmin, Filter paper |
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