Takamatsu J, Ikegami Y, Sakane S, Kitaoka H, Takeda K, Ohsawa N
First Department of Medicine, Osaka Medical College.
Endocrinol Jpn. 1990 Jun;37(3):389-95. doi: 10.1507/endocrj1954.37.389.
A recent report documented the existence of three putative types of variant albumin in dysalbuminemic hyperthyroxinemia (DH) and suggested that measurement of the total concentration of three iodothyronines (T4, T3 and rT3) in serum of affected subjects could aid in their differentiation. In the present report, we describe three affected subjects from a single family which DH exhibited, in addition to increased serum total T4 levels, variable changes in the concentrations of total T3 and rT3. The concentrations of the following iodothyronines were above the normal limit: T4, T3 and rT3 in the propositus, T4 and T3 but not rT3 in her sister, and T4 but not T3 and rT3 in her mother. These differences cannot be caused by structurally different types of variant albumins, because the three subjects are members of the same family. They rather correlated with the relative abundance of the variant albumin in serum of the affected family members. Although previously reported subjects with DH always had serum T4 levels above the normal limit due to the predominantly higher affinity of the variant albumin for T4, significant increases in the concentration of serum T3 and rT3, reaching at times values above the upper normal range, have also been observed. Since a number of factors, including the relative abundance of the variant albumin, influence the concentration of iodothyronines in serum, their measurement alone cannot be used to determine the inherited type of DH.
最近一份报告记录了白蛋白异常血症性甲状腺素过多症（DH）中存在三种假定类型的变异白蛋白，并表明检测受影响患者血清中三种碘甲状腺原氨酸（T4、T3和反T3）的总浓度有助于对它们进行区分。在本报告中，我们描述了来自一个家族的三名受影响患者，该家族的DH除血清总T4水平升高外，总T3和反T3浓度还呈现出不同变化。以下碘甲状腺原氨酸的浓度高于正常范围：先证者的T4、T3和反T3，其姐姐的T4和T3但反T3未升高，其母亲的T4但T3和反T3未升高。这些差异不可能是由结构不同类型的变异白蛋白引起的，因为这三名患者是同一家族成员。它们反而与受影响家族成员血清中变异白蛋白的相对丰度相关。尽管先前报道的DH患者由于变异白蛋白对T4的亲和力较高，血清T4水平总是高于正常范围，但也观察到血清T3和反T3浓度显著升高，有时甚至超过正常上限值。由于包括变异白蛋白相对丰度在内的多种因素会影响血清中碘甲状腺原氨酸的浓度，仅检测它们不能用于确定DH的遗传类型。
