Clinical Investigation of FIHP, Parathyroid Cancer & the HPT-JT Syndrome

本研究的目的是对甲状旁腺癌患者和家系、种系CDC73功能缺失突变、FIHP和HPT-JT的临床和遗传学特征进行研究，目的是确定疾病的临床谱，寻找与已知基因突变相关的潜在的基因型-表型相关性，并确定其种系突变易患FIHP和相关甲状旁腺综合征的新基因。人体研究对象包括NIH新陈代谢疾病临床中心分部和相关方案入院的患者以及合格的异地患者。通过基因突变分析、血和尿生化检测、分离外周血白细胞培养和检测、平片成像、CT和MRI扫描以及核医学研究来确定患者的特征。一些患者在一次或几次访问中表现出特征，而选定的家族成员则被纵向跟踪多年。

The purpose of this study is the clinical and genetic characterization of individual patients and kindreds with parathyroid cancer, germline CDC73 loss-of-function mutation, FIHP, and HPT-JT with the goals of defining the clinical spectrum of disease, searching for potential genotype-phenotype correlations relevant to mutation of known genes, and identifying new genes whose germline mutation predisposes to FIHP and related hyperparathyroid syndromes. Human research subjects included patients admitted to the NIH Clinical Center on Metabolic Diseases Branch and related protocols as well as qualified offsite patients. Gene mutational analysis, biochemical testing of blood and urine, culture and testing of isolated peripheral blood leukocytes, and imaging using plain X-rays, CT and MRI scanning, and nuclear medicine studies were used to characterize patients. Some patients were characterized during one or a few visits, while members of selected kindreds were followed longitudinally over years.