Alagaratnam Swethan, Kurzawinski Tom R
Centre for Endocrine Surgery, University College London Hospital, London, UK.
Horm Res Paediatr. 2015 May 1. doi: 10.1159/000381622.
Primary hyperparathyroidism (PHPT) in children is a rare disorder with sharp contrasts in its presentation and aetiology compared with the disease process in adults. This review outlines the current literature, which is limited to about 200 cases, with reference to the aetiology, clinical features, outcomes of investigations, and surgery in children affected by PHPT. Familial conditions account for almost half of all cases of PHPT in children, suggesting that routine genetic testing would be appropriate. Neonatal severe hyperparathyroidism requires urgent medical attention, and performing total parathyroidectomies offers cure, though conservative management is successful in selected cases. Familial hyperparathyroidism in older children can be caused by conditions such as multiple endocrine neoplasia types 1 and 2a, hyperparathyroidism-jaw tumour syndrome and familial hyperparathyroidism. The role of surgery for this group is discussed. The use of ultrasound and MIBI (Tc-methoxyisobutylnitrile) scanning appears to accurately localise solitary adenomas in sporadic PHPT, thereby supporting the role of minimally invasive parathyroidectomy in children. © 2015 S. Karger AG, Basel.
儿童原发性甲状旁腺功能亢进症（PHPT）是一种罕见疾病，与成人的疾病过程相比，其临床表现和病因有显著差异。本综述概述了目前的文献（限于约200例），涉及受PHPT影响儿童的病因、临床特征、检查结果及手术情况。家族性疾病占儿童PHPT病例的近一半，这表明进行常规基因检测是合适的。新生儿重症甲状旁腺功能亢进症需要紧急医疗处理，虽然在某些选定病例中保守治疗成功，但进行甲状旁腺全切术可实现治愈。大龄儿童的家族性甲状旁腺功能亢进症可由多种内分泌腺瘤病1型和2a型、甲状旁腺功能亢进-颌骨肿瘤综合征以及家族性甲状旁腺功能亢进症等疾病引起。本文讨论了手术对该群体的作用。超声和MIBI（锝-甲氧基异丁基异腈）扫描似乎能准确地定位散发性PHPT中的孤立性腺瘤，从而支持了儿童微创甲状旁腺切除术的作用。© 2015 S. Karger AG，巴塞尔。
