家族性低钙血症和新生儿严重甲状旁腺功能亢进。

2区医学 Q2 Medicine Frontiers of Hormone Research Pub Date : 2019-01-01 Epub Date: 2018-11-19 DOI:10.1159/000491038

Letizia Vannucci, Maria Luisa Brandi

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摘要

家族性低钙血症(FHH)和新生儿严重甲状旁腺功能亢进(NSHPT)是原发性甲状旁腺功能亢进的遗传变异。FHH通常为良性病程，患者不需要治疗，而NSHPT是一种严重的疾病，通常需要早期切除甲状旁腺以使年轻患者存活。遗传基础的最新发现和治疗方法的新发现引起了人们对这些罕见疾病的极大兴趣。

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Familial Hypocalciuric Hypercalcemia and Neonatal Severe Hyperparathyroidism.

Familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT) are genetically determined variants of primary hyperparathyroidism. FHH usually has a benign course, and patients do not require treatment, whereas NSHPT is a severe disorder often requiring early parathyroidectomy for young patients to survive. Recent discoveries in the genetic basis and new findings in therapeutic approaches have led to a great interest in these rare diseases.

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来源期刊

Frontiers of Hormone Research 医学-内分泌学与代谢

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期刊介绍： A series of integrated overviews on cutting-edge topics New sophisticated technologies and methodological approaches in diagnostics and therapeutics have led to significant improvements in identifying and characterizing an increasing number of medical conditions, which is particularly true for all aspects of endocrine and metabolic dysfunctions. Novel insights in endocrine physiology and pathophysiology allow for new perspectives in clinical management and thus lead to the development of molecular, personalized treatments. In view of this, the active interplay between basic scientists and clinicians has become fundamental, both to provide patients with the most appropriate care and to advance future research.