Department of Internal Medicine and Medical Disciplines, University of Rome Sapienza, Rome, Italy.
J Endocrinol Invest. 2011 Jul;34(7 Suppl):40-4.
Primary hyperparathyroidism (PHPT) is a common endocrine disorder, particularly frequent in post-menopausal women. It is characterized by hypercalcemia with inappropriately high spontaneous plasma PTH. Singlegland adenoma is the most common cause (75- 85%). PHPT is usually a sporadic disease but in approximately <5% of cases, a familial hyperparathyroid syndrome is diagnosed. Familial hyperparathyroidism is a clinically and genetically heterogeneous group of disorders including: multiple endocrine neoplasia (MEN) type 1, MEN type 2A, MEN4, benign familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, hyperparathyroidism-jaw tumor syndrome, and familial isolated hyperparathyroidism. These syndromes show mendelian inheritance patterns and the main genes for most of them have been defined. The classic form of PHPT, which presents with hypercalcemia, kidney stones, and bone disease, is no longer common. Currently, there is an increasing interest in the subtle manifestations of PHPT, particularly the cardiovascular and neuropsychiatric manifestations. Parathyroidectomy is the definitive cure for PHPT even though patients with the asymptomatic form of the disease can be followed conservatively.
原发性甲状旁腺功能亢进症（PHPT）是一种常见的内分泌疾病，尤其在绝经后妇女中较为常见。其特征是血钙升高，自发性血浆甲状旁腺激素水平升高。甲状旁腺腺瘤是最常见的病因（75-85%）。PHPT 通常为散发性疾病，但约 <5%的病例诊断为家族性甲状旁腺功能亢进症。家族性甲状旁腺功能亢进症是一组具有临床和遗传异质性的疾病，包括：多发性内分泌腺瘤（MEN）1 型、MEN 2A 型、MEN4 型、良性家族性低钙血症性高钙血症、新生儿严重甲状旁腺功能亢进症、甲状旁腺功能亢进-颌骨肿瘤综合征和家族性孤立性甲状旁腺功能亢进症。这些综合征呈孟德尔遗传模式，其中大多数的主要基因已被确定。伴有高钙血症、肾结石和骨病的经典 PHPT 已不再常见。目前，人们对 PHPT 的微妙表现，特别是心血管和神经精神表现越来越感兴趣。甲状旁腺切除术是 PHPT 的明确治疗方法，尽管无症状患者可以保守治疗。
