一个家族性异常白蛋白性高甲状腺素血症家系临床特点分析  

Clinical characteristics of a family with familial dysalbuminemic hyperthyroxinemia

作　　者：赵琳琳[1] 黄凤姣 潘梦醒 赵艳艳[1] ZHAO Linlin;HUANG Fengjiao;PAN Mengxing;ZHAO Yanyan(Department of Endocrinology and Metabolism,the First Affiliated Hospital,Zhengzhou University,Zhengzhou 450052)

机构地区：[1]郑州大学第一附属医院内分泌与代谢病科,郑州450052

出　　处：《郑州大学学报（医学版）》2023年第5期718-723,共6页Journal of Zhengzhou University(Medical Sciences)

基　　金：河南省高等学校青年骨干教师培养计划项目(2019GGJS023)。

摘　　要：目的:分析1个家族性异常白蛋白性高甲状腺素血症(FDH)家系的遗传学特点及甲状腺激素的实验室检测特点。方法:收集2021年3月就诊于郑州大学第一附属医院的1例男性FDH患者及其家庭成员的临床资料,采用高通量测序法检测先证者全部基因各外显子的序列变异情况,采用Sanger测序法验证家系其他成员白蛋白(ALB)基因的变异情况。分别应用Roche、Beckman、Abbott 3种平台试剂盒检测该家系中FDH患者的FT 3、FT 4、TSH水平。结果:家系中共有4例患者。经基因检测均存在相同的ALB基因错义突变c.725G>A(p.R218H);先证者父亲及外祖母未患病,且未检测到该基因突变。4例FDH患者TT 4超出正常上限0.25~0.56倍,TT 3及rT 3均未超出正常范围。4例FDH患者Roche、Beckman、Abbott平台检测结果显示FT 3测定值超正常上限百分比分别为0.0%~6.9%、0.0%~11.4%、0.0%~7.8%,FT 4测定值超正常上限百分比分别为25.1%~39.4%、32.8%~92.8%、0.0%~11.3%。结论:R218H突变的FDH患者血清TT 4轻度升高,不同平台所测FT 4水平升高程度不同。Aim:To analyze the genetic and thyroxine laboratory test characteristics of a family with familial dysalbuminemic hyperthyroxinemia(FDH).Methods:Clinical data of a family with FDH were collected and retrospectively analyzed.High-throughput sequencing method was used to detect the sequence variation of each exon of all genes of the proband,and Sanger sequencing method was used to detect the sequence variation of albumine(ALB)gene of other family members.FDH patients were tested for FT 3,FT 4,and TSH using chemiluminescent immunoassays of different platforms such as Roche,Beckman and Abbott.Results:There were 4 FDH patients in this family.The genetic sequencing showed they all carried the same missense mutation of ALB gene(c.725G>A)(p.R218H).The proband′s father and maternal grand mother were normal and the same site mutation was not found in both of them.The level of TT 4 of the 4 FDH patients exceeded the normal upper limit by 0.25-0.56 times while the levels of TT 3 and rT 3 were within the normal range.The percentage of FT 3 value exceeding the normal upper limit was 0.0%-6.9%in Roche,0.0%-11.4%of Beckman and 0.0%-7.8%of Abbott,respectively.In addition,the percentage of FT 4 value exceeding the normal upper limit was 25.1%-39.4%of Roche,32.8%-92.8%of Beckman and 0.0%-11.3%of Abbott,respectively.Conclusion:Serum TT 4 is slightly elevated in FDH patients with R218H mutation.The elevation degrees of FT 4 differs in different platforms.

关 键 词：家族性异常白蛋白性高甲状腺素血症 总甲状腺素 甲状腺功能正常 白蛋白基因 

分 类 号：R581[医药卫生—内分泌]