Department of Pediatric and Adolescent Endocrinology, Chair of Pediatrics, Pediatric Institute, Medical College, Jagiellonian University in Cracow, Poland.
Department of Pediatric and Adolescent Endocrinology, University Children's Hospital in Cracow, Poland.
Pediatr Endocrinol Diabetes Metab. 2022;28(2):114-122. doi: 10.5114/pedm.2022.112860.
Some storage diseases, caused by a deficiency of a specific enzyme, which results in the systemic accumulation of non-metabolized substances, can be treated with enzyme replacement therapy (ERT), which can protect many organs, including the endocrine system.
The aim of the study was to assess the function and morphology of the thyroid gland in children with storage diseases treated with ERT, and to review the literature.
Eight patients were included in the study: 3 with Fabry disease (age: 17; 9.9; 10 years), 3 with Hunter's disease (12.3; 4.1; 9,3), and 2 with Pompe disease (6.8; 9,5). Thyroid function and morphology were assessed in each patient during ERT, and 4 of them were reassessed 27 months later.
One patient with Fabry disease had been treated for hypothyroidism due to autoimmune thyroiditis diagnosed before the study. The remaining patients had normal thyroid tests and negative anti-thyroid antibodies at first and second evaluation; however, in all reassessed patients a decrease in TSH value was noted. Among the remaining patients with Fabry disease, one had normal and a second had heterogeneous echogenicity of the thyroid during first assessment. In the second patient, normalisation of echogenicity was observed at reassessment. Both patients with Pompe disease assessed once had slightly heterogeneous thyroid echogenicity. In 3 patients with Hunter's disease in the first ultrasound examination, no abnormalities were found. In re-evaluation, 2 of them showed heterogeneous thyroid echogenicity.
We conclude that patients with storage diseases should undergo assessment of thyroid function and morphology before and during ERT.
一些由特定酶缺乏引起的储存疾病，导致未代谢物质在全身积累，可以通过酶替代疗法（ERT）进行治疗，该疗法可以保护包括内分泌系统在内的许多器官。
本研究旨在评估接受 ERT 治疗的储存疾病儿童的甲状腺功能和形态，并复习相关文献。
研究纳入 8 例患者：3 例 Fabry 病（年龄：17 岁；9.9 岁；10 岁），3 例 Hunter 病（12.3 岁；4.1 岁；9.3 岁），2 例 Pompe 病（6.8 岁；9.5 岁）。每位患者在接受 ERT 期间均评估甲状腺功能和形态，其中 4 例在 27 个月后再次评估。
1 例 Fabry 病患者因研究前诊断的自身免疫性甲状腺炎而接受甲状腺功能减退症治疗。其余患者在首次和第二次评估时甲状腺检查均正常，且抗甲状腺抗体阴性；然而，所有再次评估的患者均发现 TSH 值降低。在其余 3 例 Fabry 病患者中，1 例首次评估时甲状腺回声均匀，另 1 例不均匀。第二次评估时，第 2 例患者的回声均匀性恢复正常。2 例 Pompe 病患者仅接受了一次超声检查，甲状腺回声不均匀。在 3 例 Hunter 病患者的首次超声检查中，均未发现异常。在重新评估中，其中 2 例患者甲状腺回声不均匀。
我们得出结论，接受储存疾病治疗的患者应在接受 ERT 之前和期间评估甲状腺功能和形态。
