Matsuo T, Ushiroda Y
Nobeoka City Medical Association Hospital, Department of Internal Medicine, Nobeoka City, Miyazaki Prefecture, Japan.
Acta Endocrinol (Buchar). 2016 Jan-Mar;12(1):91-95. doi: 10.4183/aeb.2016.91.
Autoimmune thyroid disease is considered a multifactorial disorder in which autoimmunity against thyroid antigens is facilitated by exposure to endogenous and environmental factors. We present here a rare case of identical female twins who developed consecutively Graves' disease within a few months and had three HLA susceptibility alleles for the development of Graves' disease.
A 28-year-old woman was referred to our hospital complaining of thirst, sweating, palpitations, tremor and skin rash. Laboratory data showed hyperthyroidism with antibodies against the thyroid stimulating hormone receptor and ultrasonography of the thyroid revealed enlargement with hypervascularity. Her identical twin was referred to our hospital because of similar symptoms.
We diagnosed them with Graves' disease and both were treated with methimazole. Human leukocyte antigen genotyping showed that both twins possessed the DRB104:05, DQB104:01:01, DPB1*05:01 haplotype, which confers susceptibility to Graves' disease.
This case supports the hypothesis that interaction of multiple human leukocyte antigen susceptibility alleles as well as genetic background and environmental factors might synergistically contribute the close timing in Graves' disease onset.
自身免疫性甲状腺疾病被认为是一种多因素疾病，其中针对甲状腺抗原的自身免疫是由内源性和环境因素的暴露所促成的。我们在此呈现一例罕见的同卵双胞胎女性病例，她们在几个月内相继患上格雷夫斯病，且拥有三个与格雷夫斯病发病相关的人类白细胞抗原易感等位基因。
一名28岁女性因口渴、多汗、心悸、震颤和皮疹前来我院就诊。实验室检查数据显示甲状腺功能亢进，伴有抗促甲状腺激素受体抗体，甲状腺超声检查显示甲状腺肿大且血流丰富。她的同卵双胞胎因类似症状也被转诊至我院。
我们诊断她们患有格雷夫斯病，并均用甲巯咪唑进行治疗。人类白细胞抗原基因分型显示，这对双胞胎均拥有DRB104:05、DQB104:01:01、DPB1*05:01单倍型，该单倍型赋予了对格雷夫斯病的易感性。
该病例支持以下假说，即多种人类白细胞抗原易感等位基因以及遗传背景和环境因素之间的相互作用可能协同促成格雷夫斯病发病时间的接近。
