血清セルロプラスミン値が正常を示したＷｉｌｓｏｎ病の幼児例

概要

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A 5-year-old girl presented with chronic liver dysfunction. Her serum ceruloplasmin level was within normal range. Urinary copper excretion was slightly elevated. We performed ATP7B gene analysis. And mutations were found intron 4 and exon 18. One splicing donor site mutation, 1708-5 t to g, and missense mutation, N1270S, were detected. We thus diagnosed her to have Wilson disease with normo-ceruloplasminine-mia. And we confirmed her diagnosis by measurement of hepatic copper content. Then, familial analysis was performed by gene analysis. Three carriers (parents and older brother) were detected. We conclude that molecular diagnosis is very useful for atypical cases of Wilson disease.
日本微量元素学会の論文