Mizamtsidi Maria, Nastos Constantinos, Mastorakos George, Dina Roberto, Vassiliou Ioannis, Gazouli Maria, Palazzo Fausto
Department of EndocrinologyDiabetes and Metabolism, Hellenic Red Cross Hospital, Athens, Greece
Second Department of SurgeryEndocrine Surgery Unit, Aretaieion University Hospital, National and Kapodistrian University of Athens, Athens, Greece.
Endocr Connect. 2018 Feb;7(2):R56-R68. doi: 10.1530/EC-17-0283. Epub 2018 Jan 12.
Primary hyperparathyroidism (pHPT) is a common endocrinopathy resulting from inappropriately high PTH secretion. It usually results from the presence of a single gland adenoma, multiple gland hyperplasia or rarely parathyroid carcinoma. All these conditions require different management, and it is important to be able to differentiate the underlined pathology, in order for the clinicians to provide the best therapeutic approach. Elucidation of the genetic background of each of these clinical entities would be of great interest. However, the molecular factors that control parathyroid tumorigenesis are poorly understood. There are data implicating the existence of specific genetic pathways involved in the emergence of parathyroid tumorigenesis. The main focus of the present study is to present the current optimal diagnostic and management protocols for pHPT as well as to review the literature regarding all molecular and genetic pathways that are to be involved in the pathophysiology of sporadic pHPT.
原发性甲状旁腺功能亢进症（pHPT）是一种常见的内分泌病，由甲状旁腺激素（PTH）分泌异常增高所致。其病因通常为单发性腺瘤、多发性腺体增生，甲状旁腺癌则较为罕见。所有这些病症需要不同的治疗方法，能够鉴别相关病理情况很重要，以便临床医生提供最佳治疗方案。阐明这些临床病症各自的遗传背景将非常有意义。然而，控制甲状旁腺肿瘤发生的分子因素目前仍知之甚少。有数据表明存在参与甲状旁腺肿瘤发生的特定遗传途径。本研究的主要重点是介绍目前pHPT的最佳诊断和管理方案，并综述有关散发性pHPT病理生理学中涉及的所有分子和遗传途径的文献。
