Mass screening for Wilson's disease by measuring urinary holoceruloplasmin.
We conducted a mass-screening method to detect presymptomatic Wilson's disease in children by measuring urinary holoceruloplasmin. Two cases of Wilson's disease were found by testing urine samples from 48,819 children. The diagnosis was confirmed by clinical laboratory tests and the detection of a mutated ATP 7B gene.
Owada
Misao
M
Department of Pediatrics, Nihon University Surugadai Hospital, Tokyo Health Service Association, Tokyo, Japan.
Suzuki
Ken
K
Fukushi
Masaru
M
Yamauchi
Kuniaki
K
Kitagawa
Teruo
T
D000293:Adolescent; D016022:Case-Control Studies; D002570:Ceruloplasmin / Q000652:urine*; D002648:Child; D002675:Child, Preschool; D006527:Hepatolenticular Degeneration / Q000517:prevention & control* / Q000652:urine*; D006801:Humans; D008403:Mass Screening / Q000379:methods*
D002570:Ceruloplasmin