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目的报告一个家族性异常白蛋白高甲状腺素血症(familialdysalbuminaemichyperthyroxinaemia,FDH)家系。方法测定家系4个成员(先证者、母亲、女儿和弟弟)血清甲状腺激素和促甲状腺激素,荧光标记甲状腺素(thyroxine,T4)和血清温育后进行蛋白电泳,白蛋白基因点突变检测。结果先证者、母亲和女儿的血清总甲状腺素升高,游离甲状腺素、总三碘甲腺原氨酸、游离三碘甲腺原氨酸和促甲状腺激素正常,蛋白电泳显示T4-白蛋白峰明显升高增宽,白蛋白基因DNA编码区653G→A。弟弟的甲状腺激素正常,T4结合蛋白电泳未见异常,白蛋白基因未见突变。结论首次报道国内一个FDH家系,白蛋白基因DNA编码区653G→A引起白蛋白和T4亲和性增加,导致血清T4测定假性升高。
Objective To report a familial dysb albuminemyyperthyroxinaemia (FDH) pedigree. Methods Serum thyroid hormones and thyrotropin, thyroxine (T4) and serum were incubated in four families of family members (proband, mother, daughter and brother). The protein electrophoresis and albumin gene mutation were detected. RESULTS: Serum total thyroxine, free thyroxine, total triiodothyronine, free triiodothyronine and thyrotropin were elevated in probands, mothers and daughters. Protein electrophoresis showed that T4-albumin The peak increased significantly widened, albumin gene DNA coding region 653G → A. His younger brother had normal thyroid hormone, no abnormal T4-binding protein electrophoresis, and no mutation in the albumin gene. Conclusions The first report of a domestic FDH family, albumin gene DNA coding region 653G → A caused albumin and T4 affinity increased, resulting in falsely elevated serum T4 measured.