Leger F A, Doumith R, Courpotin C, Helal O B, Davous N, Aurengo A, Savoie J C
Eur J Clin Invest. 1987 Jun;17(3):249-55. doi: 10.1111/j.1365-2362.1987.tb01244.x.
Two cases of congenital defect in iodide trapping mechanism are related. The absence of thyroid and gastric concentration of 99mTcO4 led to the diagnosis. The study of saliva and gastric:serum concentration ratios confirmed the complete defect. The kinetics of radioiodine studied by external detection showed an early simultaneous decay in the thyroid, the stomach and the left ventricle. Thyroid accumulation of 131I, demonstrated by camera imaging, was estimated to be 0.1% at 48 h. It probably originated from simple diffusion. Iodide supplementation was progressively increased to 4.5 g and 10 g day-1 respectively. It resulted in a normalization of all parameters. Huge doses of iodide did not result in any evidence of hyperthyroidism as TSH rose normally after TRH. Intermittent iodide supplementation in one case could not maintain euthyroidism longer than a few weeks. Daily treatment, therefore, seems necessary.
报告了两例先天性碘捕获机制缺陷的病例。甲状腺和胃对99mTcO4缺乏摄取导致了诊断。唾液与胃：血清浓度比的研究证实了完全性缺陷。通过外部检测研究的放射性碘动力学显示，甲状腺、胃和左心室早期同时出现衰变。通过相机成像显示，48小时时131I在甲状腺中的蓄积估计为0.1%。这可能源于简单扩散。碘补充剂分别逐渐增加至每日4.5克和10克。这使得所有参数恢复正常。大剂量碘并未导致任何甲状腺功能亢进的迹象，因为促甲状腺激素在促甲状腺激素释放激素（TRH）后正常升高。在一个病例中，间歇性补充碘不能维持甲状腺功能正常超过几周。因此，每日治疗似乎是必要的。
