中华骨质疏松和骨矿盐疾病杂志2016，Vol.9Issue(3)：314-322,9.DOI:10.3969/j.issn.1674-2591.2016.03.016
遗传性原发性甲状旁腺功能亢进症
Hereditary primary hyperparathyroidism
摘要
Abstract
Primary hyperparathyroidism ( PHPT) is a common endocrine disorder .About 10%of cases are fa-milial forms or part of syndromes , which occur earlier than sporadic form .Clinically, it is important to recognize these hereditary PHPT , because management and prognosis of hereditary PHPT are different from those of sporadic PHPT .In the last decades , numbers of specific genes have been identified responsible for various types of hereditary PHPT .Muta-tion analysis is helpful to improve the diagnostic accuracy allowing proper management of probands and their family mem -bers.关键词
遗传性原发性甲状旁腺功能亢进症/多发性内分泌腺瘤病/家族性低尿钙性高钙血症/甲状旁腺功能亢进症-颌骨肿瘤综合征/家族性孤立性原发性甲状旁腺功能亢进症Key words
hereditary primary hyperparathyroidism/multiple endocrine neonplasia/familial hypocalciuric hy-percalcemia/hyperparathyroidism-jaw tumor syndrome/familial isolated primary hyperparathyroidism分类
医药卫生引用本文复制引用
孔晶,王鸥,邢小平..遗传性原发性甲状旁腺功能亢进症[J].中华骨质疏松和骨矿盐疾病杂志,2016,9(3):314-322,9.基金项目
国家自然科学基金（81270873）；国家临床重点专科基金 （）
