Lössner J, Bachmann H, Siegemund R, Kühn H J, Günther K
Klinik für Neurologie der Karl-Marx-Universität Leipzig.
Psychiatr Neurol Med Psychol (Leipz). 1990 Oct;42(10):585-600.
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.
威尔逊氏病是一种常染色体隐性遗传代谢紊乱疾病，由铜代谢紊乱引起。虽然原发性基因缺陷尚不清楚，但通过清除体内异常蓄积的金属来建立负铜平衡，长期治疗是必要的。本文报告了我国20年来处理这种疾病的经验。特别讨论了流行病学发现、诊断程序和治疗方案中的策略。还提到了基因组诊断的未来进展。
