Japanese
English
- 有料閲覧
- Abstract 文献概要
- 1ページ目 Look Inside
I.はじめに
Wilson病は先天性の代謝障害に基づく疾患であり,本病に特有な銅代謝異常を確認することにより本症が将来発症することをすでに乳児期に予言し得るようになりつつある1)〜4)。Wilson病が遺伝性疾患であることは今日ほぼ確定された事実と考えられ,その遺伝形質はMathews, André, Bearnらにより常染色体性劣性遺伝であろうとされた。一方,山内8)9)は銅,肝,神経の三因子を仮定し,前二者は連関をなして優生に,神経因子は劣性に遺伝するとの仮設を提唱している。著者らも過去数年来本症の遺伝学的研究を行なつてきたので,今までに得られた成績をまとめ,小児Wilson病の遺伝形成,遺伝子頻度,本邦における患者の分布,heterozygous carrierの特徴などについて得られた知見を述べることにする。
A genetical and biochemical analysis per-formed for sixteen families with Wilson's dis-ease of childhood indicated that the mode of inheritance in Wilson's disease is very pro-bably autosomal recessive. Hepatic symptoms were predominant in the patients who develo-ped the disease under nine years of age.
By a successive determination over a peri-od of three or more months, a decreased con-centration of ceruloplasmin had been obtained at least once in fourteen of thirty parents and thirteen of thirty-two healthy siblings. In the patients whose ceruloplasmin levels had been extremely low only minimum fluc-tuations of the leveles were observed, while a marked increase or decrease in the levels occured in the patients with a slightly low ceruloplasminl evels and in the heterozygotes. In almos tall heterozygotes, Kayser-Fleischer rings, abnormal hepatic function, and an inc-reased urinary copper and aminoacid were not found.
Copyright © 1963, Igaku-Shoin Ltd. All rights reserved.