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小儿甲状旁腺功能减退症的表现与治疗:病例报告

Presentation and management of hypoparathyroidism in a paediatric patient - a case report.

机构信息

4th Year MBBS Student, Dow University of Health Sciences, Karachi.

4th year MBBS Student, Dow University of Health Sciences, Karachi, Pakistan.

出版信息

J Pak Med Assoc. 2023 Mar;73(3):731-734. doi: 10.47391/JPMA.6824.

Abstract

Hypoparathyroidism occurs due to insufficient parathyroid gland activity leading to abnormal calcium and phosphate levels. The presentation of hypoparathyroidism is rare in adults and mostly encountered in the paediatric population. We present a case of a 3.5-month-old male infant with the presenting complaint of an episode of afebrile generalized tonic-clonic seizure. Haematological, urinary, cerebro-spinal fluid and radiological investigations were unremarkable but a biochemical profile revealed hypocalcaemia, hyperphosphataemia and lowered vitamin D3 levels. Parathyroid hormone profile showed a decreased level, confirming diagnosis of hypoparathyroidism. Intravenous administration of calcium and magnesium in combination with oral activated vitamin D3 and phosphate binders managed to resolve symptoms and maintain normal levels. The rationale of this case is to confirm the necessity of early diagnosis to prevent irreversible sequelae of hypocalcaemia and regular monitoring of treatment to avoid side-effects of medication.

摘要

甲状旁腺功能减退症是由于甲状旁腺功能不足导致钙和磷水平异常而发生的。成人甲状旁腺功能减退症的表现较为罕见,主要见于儿科人群。我们报告了一例 3.5 个月大男性婴儿的病例,其主要表现为无热全身性强直阵挛性癫痫发作。血液学、尿液、脑脊液和影像学检查均无异常,但生化检查显示低钙血症、高磷血症和维生素 D3 水平降低。甲状旁腺激素谱显示水平降低,确诊为甲状旁腺功能减退症。静脉注射钙和镁联合口服活性维生素 D3 和磷酸盐结合剂可缓解症状并维持正常水平。本病例的基本原理是确认早期诊断的必要性,以预防低钙血症的不可逆转的后遗症,并定期监测治疗以避免药物的副作用。

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