Inoue K, Okajima T, Tanaka E, Ando B, Takeshita M, Masuda A, Yamamoto M, Sakai K
Metabolism and Endocrinology Unit, Clinical Research Institute, National Kyushu Medical Center Hospital, Fukuoka, Japan.
Endocr J. 1999 Feb;46(1):173-7. doi: 10.1507/endocrj.46.173.
The patient was a woman of forty-eight. Liver dysfunction was pointed out at the age of forty-five. She was admitted to hospital because of her hyperthyroidism. Her palmar skin was wet and her fingers were swollen like sausages. She had a diffuse and elastic hard goiter with a rough surface. The serum levels of free T3 (9.6 pg/mL) and free T4 (3.76 ng/dL) were high and that of TSH (0.11 microU/mL) was low. The activity of TSH-binding inhibitory immunoglobulin (TBII) was 89%. The uptake rate of 123I to the thyroid was 55.1% and the uptake pattern was nearly diffuse. The goiter was proved to contain several nodules by ultrasonography, but aspiration cytology showed no malignant cells. She was diagnosed to have Graves' disease with adenomatous goiter. She also had high ALT (34 IU/L) and gamma-globulin (1.97 g/dL). She had positive antinuclear antibody (speckled type), positive anti-ribosomal nuclear protein antibody, and positive LE cell phenomenon. The liver biopsy revealed mononuclear cell infiltration with fibrosis in the portal area. These data indicated that she also had autoimmune hepatitis (AIH) and mixed connective tissue disease (MCTD). The analysis of human leukocyte antigen (HLA) showed positive A11 which had been reported to relate to Graves' disease, and positive DR4 which had been reported to relate to AIH and MCTD. These results suggested that HLA would determine susceptibility to three distinct autoimmune diseases in this case.
患者为一位48岁女性。45岁时被指出存在肝功能障碍。她因甲状腺功能亢进症入院。她手掌皮肤湿润，手指肿胀得像香肠。她有一个表面粗糙、弥漫性且有弹性的硬甲状腺肿。血清游离T3（9.6 pg/mL）和游离T4（3.76 ng/dL）水平升高，促甲状腺激素（TSH，0.11 microU/mL）水平降低。促甲状腺激素结合抑制性免疫球蛋白（TBII）活性为89%。123I对甲状腺的摄取率为55.1%，摄取模式几乎呈弥漫性。超声检查证实甲状腺肿含有多个结节，但细针穿刺细胞学检查未发现恶性细胞。她被诊断为伴有腺瘤性甲状腺肿的格雷夫斯病。她还存在高谷丙转氨酶（34 IU/L）和γ-球蛋白（1.97 g/dL）。她抗核抗体呈阳性（斑点型），抗核糖体核蛋白抗体呈阳性，狼疮细胞现象呈阳性。肝脏活检显示门管区有单核细胞浸润伴纤维化。这些数据表明她还患有自身免疫性肝炎（AIH）和混合性结缔组织病（MCTD）。人类白细胞抗原（HLA）分析显示A11呈阳性，据报道其与格雷夫斯病相关，DR4呈阳性，据报道其与AIH和MCTD相关。这些结果表明，在该病例中HLA会决定对三种不同自身免疫性疾病的易感性。
