Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Building 10, Room 8C-101, 10 Center Drive, MSC 1752, Bethesda, MD 20892, USA.
Endocrinol Metab Clin North Am. 2017 Jun;46(2):405-418. doi: 10.1016/j.ecl.2017.01.006. Epub 2017 Feb 23.
Primary hyperparathyroidism (HPT) is a metabolic disease caused by the excessive secretion of parathyroid hormone from 1 or more neoplastic parathyroid glands. HPT is largely sporadic, but it can be associated with a familial syndrome. The study of such families led to the discovery of tumor suppressor genes whose loss of function is now recognized to underlie the development of many sporadic parathyroid tumors. Heritable and acquired oncogenes causing parathyroid neoplasia are also known. Studies of somatic changes in parathyroid tumor DNA and investigation of kindreds with unexplained familial HPT promise to unmask more genes relevant to parathyroid neoplasia.
原发性甲状旁腺功能亢进症（HPT）是一种由甲状旁腺激素从 1 个或多个肿瘤性甲状旁腺过度分泌引起的代谢性疾病。HPT 主要是散发性的，但它可能与家族综合征有关。对这些家族的研究导致了肿瘤抑制基因的发现，其功能丧失现在被认为是许多散发性甲状旁腺肿瘤发展的基础。导致甲状旁腺肿瘤发生的遗传性和获得性癌基因也已被发现。对甲状旁腺肿瘤 DNA 的体细胞变化的研究以及对原因不明的家族性 HPT 的家族调查有望揭示更多与甲状旁腺肿瘤发生相关的基因。
