小児Wilson氏病の診断ならびに遺伝学的考察

DIAGNOSIS AND GENETIC ASPECTS OF WILSON'SDISEASE IN CHILDHOOD

　Wilson氏病は遺伝性の代謝障害に基く疾患といわれている^1）が，その根底をなす代謝異常が何であるかは未だ明らかでない。

　しかしながら，本症は，Kayser-Fleischer角膜輪，血清ceruloplasmin値の低下，血清銅の減少，尿中銅排泄量の増加，経口的にCu⁶⁴を負荷した際の血清ceruloplasminへの移行の欠除^2）3）などの銅代謝異常を確認することにより，大多数の症例が臨床的に適確に診断され得る。著者らは，先に，血清ceruloplasmin値が正常で，顆粒状肝硬変を示したabdominal Wilsonの1家系および酵素異常と銅代謝異常を確認することにより，臨床症状出現以前にWilson氏病と診断し得た1例を報告した^5）−7）。今回は，著者らが経験した12家系15例のWilson氏病についての知見を総括し，さらに，本症はmetabolic inborn er-rorであるとの概念に基いて，その診断ならびにPathogeneseに2,3の考察を加えたいと思う。

Clinical and laboratory findings in 15 chil-dren with Wilson's disease were reported.Four cases died of hepatic insufficiency be-1tween 6 years 5 months and 12 years old, andneither of them developed neurological signsor symptoms during life. Two girls of 5years 5 months and 8 years of age look wellnow and the detected abnormalities at pre-sent are an elevation of transaminase andlactic dehydrogenase activities, aminoacidu-ria, very low serum ceruloplasmin levels, andan increased urinary copper excretion. Ka-yser-Fleischer rings were not found in thepatients of less than 7 years old. The deter-minations of serum ceruloplasmin and tran-saminase levels were most useful for thediagnosis and detection of hepatic distur-bance at an early stage of Wilson's disease,except for the rare cases with normal ceru-loplasmin levels. Of 12 families, there were7 consanguineous marriage. Genetic studieswere made on the basis of family history, examination of Kayser-Fleischer rings andliver functions, as well as determinations ofserum cerulopalsmin levels and urinary out-puts of copper and aminoacid, in the parentsand siblings.