期刊
JOURNAL OF BONE AND MINERAL METABOLISM
卷 32, 期 4, 页码 351-366出版社
SPRINGER JAPAN KK
DOI: 10.1007/s00774-013-0551-9
关键词
Familial primary hyperparathyroidism; Multiple endocrine neoplasia type 1 and 2A; Hyperparathyroidism-jaw tumor syndrome; Familial benign hypocalciuric hypercalcemia; Familial isolated hyperparathyroidism
Primary hyperparathyroidism is a heterogeneous clinical entity. In the clinical setting, the diagnosis and management of familial isolated hyperparathyroidism (FIHP) and other familial hyperparathyroidism (FHPT) forms continue to rely on clinical, laboratory, and histological findings, with careful examination of the family. In this article, we report a case series of FIHP in a four-generation Greek family, with no identifiable gene mutations. Clinical approach and long-term follow-up are discussed and a narrative review of the genetic basis of this entity has been performed.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据