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

本研究的目的是对甲状旁腺癌、FIHP和HPT-JT个体患者和家族进行临床表征，目标是定义疾病的临床谱，识别共享或新型种系突变，并寻找可能的基因型-表型相关性。 人类研究受试者包括入住NIH代谢疾病临床中心分支和相关方案的患者以及合格的场外患者。 基因突变分析，血液和尿液的生化检测，培养和检测分离的外周血白细胞，并使用普通X射线，CT和MRI扫描成像，以及核医学研究来表征患者。一些患者在一次或几次访视期间进行了表征，而选定的运动功能的成员则在多年内进行了纵向随访。

The purpose of this study is the clinical characterization of individual patients and kindreds with parathyroid cancer, FIHP, and HPT-JT with the goals of defining the clinical spectrum of disease, identifying shared or novel germline mutations, and searching for possible genotype-phenotype correlations. 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.