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

FIHP、甲状旁腺癌的临床研究

• 批准号: 8349764
• 负责人: WILLIAM F SIMONDS
• 金额: $ 27.04万
• 依托单位: NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/8349764
• 关键词: 1q25; Adult; Affect; Amino Acids; Bilateral; Biochemical; Blood Tests; Calcium-Sensing Receptors; Chromosomes, Human, Pair 1; Clinical; Clinical Research; Clinical Trials; Critical Pathways; Cystic kidney; Discipline of Nuclear Medicine; Disease; Family; Genes; Genotype; Germ-Line Mutation; Goals; Human Subject Research; Hyperparathyroidism; Image; Individual; Inherited; International; Jaw; Kidney Neoplasms; Leukocytes; Link; MEN1 gene; MRI Scans; Metabolic Diseases; Minority; Mutation; Names; Nature; Neoplasms; Patients; Penetrance; Phenotype; Predisposition; Proteins; Protocols documentation; Qualifying; Receptor Gene; Research Personnel; Roentgen Rays; Signal Transduction; Solid; Syndrome; Testing; Tumor-Suppressor Gene Inactivation; United States National Institutes of Health; Urine; Visit; X-Ray Computed Tomography; arm; cell growth; insight; kindred; malignant parathyroid gland tumor; member; novel; peripheral blood; protein function; trait; transmission process; tumor

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.

本研究的目的是了解患有甲状旁腺癌、FIHP 和 HPT-JT 的个体患者和亲属的临床特征，目的是定义疾病的临床谱，识别共有或新的种系突变，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机构和相关协议收治的患者以及合格的场外患者。 通过基因突变分析、血液和尿液的生化检测、分离的外周血白细胞的培养和检测，以及使用普通 X 射线成像、CT 和 MRI 扫描以及核医学研究来表征患者。有些患者在一次或几次就诊期间就得到了特征描述，而选定的亲属成员则被纵向跟踪多年。