All issues > Volume 44(12); 2001

Original Article

J Korean Pediatr Soc. 2001;44(12):1374-1380. Published online December 15, 2001.

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

Sihoun SH Hahn¹, Soo-Young SY Lee¹, Young-Ju YJ Jang², Soon-Nam SN Kim¹, Ha-Cheol HC Shin³, Sun-Young SY Park³, Joo-Hyoung JH Kang¹, Eun-Sun ES 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

Correspondence Sihoun SH Hahn ,Email: omik@madang.ajou.ac.kr

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.

Keywords :Screening, Wilson disease, ELISA, Ceruloplasmin, Filter paper