PDF(Pubmed)
Abstract：
Thyrotoxic periodic paralysis (TPP) is a rare complication of hyperthyroidism characterized by typical muscular symptoms, ranging from paresis to complete paralysis, commonly associated with low potassium blood levels (<3 mmol/l). It is more commonly reported in adult Asian individuals and can lead to life-threatening situations. Therefore, early clinical diagnosis and targeted therapy are of crucial importance. In this article, we report the case of a 17-year-old adolescent with a Vietnamese background and known Graves\' disease who was admitted with typical TPP-related symptoms but no hypokalemia. After treatment with an antithyroid medication and oral potassium supplementation, no new episode of TPP was observed. Using next-generation sequencing, a genetic analysis of TPP-related ion channel genes (KCNJ2, KCNJ18, KCNE3, SCN4A, and CACNA1S) found no known/likely pathogenic variants or variants of unknown significance. To the best of our knowledge, this is only the second reported case of quite normokalemic TPP in the pediatric population. Prompt diagnosis of TPP is essential to prevent harmful complications. Supplementation with potassium appears to be successful alongside non-selective beta-blockers. Normalization of thyroid function should be pursued to prevent new attacks, which is considered the best preventive measure.
摘要：
甲状腺毒性周期性麻痹（TPP）是甲状腺功能亢进的一种罕见并发症，以典型的肌肉症状为特征，从轻瘫到完全瘫痪，通常与低钾血液水平（<3mmol/l）有关。它在亚洲成年人中更常见，并可能导致危及生命的情况。因此,早期临床诊断和靶向治疗至关重要。在这篇文章中,我们报道了一例17岁的越南背景和已知的Graves病青少年,入院时出现典型的TPP相关症状,但无低钾血症.在使用抗甲状腺药物和口服钾补充剂治疗后，未观察到新的TPP发作.使用下一代测序，TPP相关离子通道基因的遗传分析(KCNJ2，KCNJ18，KCNE3，SCN4A，和CACNA1S）没有发现已知/可能的致病变体或意义未知的变体。据我们所知,这只是在儿科人群中报告的第二例相当正常血钾的TPP病例.TPP的及时诊断对于预防有害并发症至关重要。与非选择性β受体阻滞剂一起补充钾似乎是成功的。应追求甲状腺功能的正常化，以防止新的攻击，这被认为是最好的预防措施。
