[威尔逊病在东德:回顾与展望——一种评价]。

J Lössner, H Bachmann, R Siegemund, H J Kühn, K Günther
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引用次数: 0

摘要

威尔逊氏病是一种常染色体隐性遗传代谢障碍,由于铜代谢紊乱。虽然主要的遗传缺陷尚不清楚,但长期治疗是必要的,通过去除异常体内储存的金属来建立负铜平衡。报告了我国20多年来防治该病的经验。特别是流行病学发现,诊断程序和治疗方案的策略进行了讨论。展望了基因组诊断学的发展前景。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
[Wilson's disease in East Germany: in retrospect and perspectives -- an evaluation].

Wilson's disease is an autosomal recessive inherited metabolic disorder due to a disturbance of copper metabolism. Although the primary genetic defect is not known a longlife treatment is necessary for establishing a negative copper balance by removing the metal of the abnormal body stores. Experiences in handling with this disease in our country over a period of 20 years are reported. Especially epidemiologic findings, the diagnostic procedures and the strategies in therapeutic regimes are discussed. Future advances in genomic diagnostics are mentioned.

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