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

本研究的目的是研究甲状旁腺癌、FIHP和HPT-JT患者的临床特征，目的是确定疾病的临床谱，识别共有的或新的种系突变，并寻找可能的基因型-表型相关性。人类研究对象包括美国国立卫生研究院代谢疾病临床中心分支和相关协议收治的患者以及合格的非现场患者。通过基因突变分析、血液和尿液生化检测、分离外周血白细胞培养和检测、x线平片成像、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被描述为特征，而选定的亲属的成员则被纵向跟踪多年。

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.