肝豆状核变性1例及家庭成员血清CP、SOD-1放免分析  

Ceruloplasmin and SOD-1 on a case report of HLD and his kindred with RIA method

作　　者：何俊民[1] 

机构地区：[1]同济大学上海放射免疫分析技术研究所,200092

出　　处：《中国优生与遗传杂志》1999年第5期108-109,共2页Chinese Journal of Birth Health & Heredity

摘　　要：用放免法测定血清铜蓝蛋白（ｃｅｒｕｌｏｐｌａｓｍｉｎ ，ＣＰ） 含量以诊断肝豆状核变性（ｈｅｐａｔｏｌｅｎｔｉｃｕｌａｒ ｄｅｇｅｎｅｒａｔｉｏｎ，ＨＬＤ）患者，并对其家庭成员的ＣＰ也作了测定，结果表明对家庭成员测定ＣＰ虽不一定有助于ＨＬＤ 杂合子的筛查，但结合患者的临床表现有助于对ＨＬＤ 的分型。此外还测定了血清铜锌超氧化物歧化酶（ｓｕｐｅｒｏｘｉｄｅ ｄｉｓｍｕｔａｓｅ，ＳＯＤ１）的含量，表明在ＨＬＤ患者中血清ＳＯＤ－ １ 可能有升高，且可能与ＨＬＤ临床症状的产生相关。The ceruloplasmin(cp) level in serum was detected with RIA method to diagnose the patient with hepatolenticular degeneration (HLD) and his kindred.The results showed that the detection of cp level in serum in patient′s kindred might be not helpful in the diagnosis of heterozygote of HLD,but was useful in the typing.The Superoxide Dismutase?1(SOD?1) level in serum was also detected and showed that it might elevate in HLD patients and might be the result of clinical symptoms of HLD.

关 键 词：肝豆状核变性 铜蓝蛋白 超氧化物歧化酶-1 家系 

分 类 号：R742.4[医药卫生—神经病学与精神病学]