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以癫痫发作为表现的假性甲状旁腺功能减退症:一例报告及文献综述

Pseudohypoparathyroidism presenting with seizures: a case report and literature review.

作者信息

Najim Mostafa Suhail, Ali Riyadh, Awad Mohammed, Omer Asaad

机构信息

Department of Internal Medicine, Hamad Medical Corporation, Doha, Qatar.

出版信息

Intractable Rare Dis Res. 2020 Aug;9(3):166-170. doi: 10.5582/irdr.2020.03014.

Abstract

Symptomatic hypocalcemia is frequently encountered in the Emergency Department, necessitating admission. It has a variety of underlying etiologies, with hypoparathyroidism and vitamin D deficiency being the most common. However, rarer etiologies such as pseudohypoparathyroidism, as was present in the current case, should not be overlooked. Reported here is a case of a young female patient presenting with generalized tonic clonic seizures. Electrocardiography revealed a prolonged QT interval which pointed towards a metabolic cause, and this was confirmed by laboratory results which indicated a low calcium level. A parathyroid pathology was obvious as the phosphate level was elevated. Pseudohypoparathyroidism, rather than hypoparathyroidism, was identified since the parathyroid hormone level was elevated. Other relevant differential diagnoses were excluded. The patient was treated with intravenous calcium initially and given regular oral calcium, calcitriol, and sevelamer.

摘要

有症状的低钙血症在急诊科经常遇到,需要住院治疗。它有多种潜在病因,其中甲状旁腺功能减退和维生素D缺乏最为常见。然而,像本例中出现的假性甲状旁腺功能减退等较罕见的病因不应被忽视。本文报告了一例年轻女性患者,表现为全身性强直阵挛发作。心电图显示QT间期延长,提示代谢原因,实验室结果证实钙水平低,从而进一步证实了这一点。由于磷酸盐水平升高,甲状旁腺病变明显。由于甲状旁腺激素水平升高,诊断为假性甲状旁腺功能减退而非甲状旁腺功能减退。排除了其他相关的鉴别诊断。患者最初接受静脉补钙治疗,并定期口服钙剂、骨化三醇和司维拉姆。

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