Cho Yoon Young, Song Ju Sun, Park Hyung Doo, Kim Young Nam, Kim Hye In, Kim Tae Hyuk, Chung Jae Hoon, Ki Chang Seok, Kim Sun Wook
Division of Endocrinology and Metabolism, Department of Medicine, Thyroid Center, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Division of Endocrinology and Metabolism, Department of Medicine, Gyeongsang National University School of Medicine, Jinju, Korea.
Ann Lab Med. 2017 Jan;37(1):63-65. doi: 10.3343/alm.2017.37.1.63.
Familial dysalbuminemic hyperthyroxinemia (FDH) is an inherited disease characterized by increased circulating total thyroxine (T4) levels and normal physiological thyroid function. Heterozygous albumin gene (ALB) variants have been reported to be the underlying cause of FDH. To our knowledge, there have been no confirmed FDH cases in Korea. We recently observed a female patient with mild T4 elevation (1.2 to 1.4-fold) and variable levels of free T4 according to different assay methods. Upon Sanger sequencing of her ALB, a heterozygous c.725G>A (p.Arg242His) variant was identified. The patient's father and eldest son had similar thyroid function test results and were confirmed to have the same variant. Although the prevalence of FDH might be very low in the Korean population, clinical suspicion is important to avoid unnecessary evaluation and treatment.
家族性异常白蛋白血症性高甲状腺素血症（FDH）是一种遗传性疾病，其特征为循环总甲状腺素（T4）水平升高且甲状腺生理功能正常。据报道，杂合子白蛋白基因（ALB）变异是FDH的潜在病因。据我们所知，韩国尚无确诊的FDH病例。我们最近观察到一名女性患者，其T4轻度升高（1.2至1.4倍），且根据不同检测方法游离T4水平有所变化。对其ALB进行桑格测序后，发现了一个杂合的c.725G>A（p.Arg242His）变异。该患者的父亲和长子甲状腺功能检查结果相似，且被证实具有相同变异。尽管FDH在韩国人群中的患病率可能非常低，但临床怀疑对于避免不必要的评估和治疗很重要。
