Pontikides Nikolaos, Karras Spyridon, Kaprara Athina, Anagnostis Panagiotis, Mintziori Gesthimani, Goulis Dimitrios G, Memi Eleni, Krassas Gerasimos
Department of Endocrinology, Diabetes and Metabolism, Panagia General Hospital, Venizelou 34b, Pilea, PO Box: 55535, Thessaloniki, Greece.
J Bone Miner Metab. 2014 Jul;32(4):351-66. doi: 10.1007/s00774-013-0551-9. Epub 2014 Jan 19.
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.
原发性甲状旁腺功能亢进是一种异质性临床病症。在临床环境中,家族性孤立性甲状旁腺功能亢进(FIHP)和其他家族性甲状旁腺功能亢进(FHPT)形式的诊断和管理仍然依赖于临床、实验室和组织学检查结果,并对家族进行仔细评估。在本文中,我们报告了一个四代希腊家族中FIHP的病例系列,未发现可识别的基因突变。文中讨论了临床处理方法和长期随访情况,并对该病症的遗传基础进行了叙述性综述。