Rifampin to reduce elevated levels of blood and urine calcium in patients with inactivating mutations in the CYP24A1 gene

利福平可降低 CYP24A1 基因失活突变患者升高的血钙和尿钙水平

• 批准号: 350582
• 负责人: Sochett Etienne B
• 金额: $ 4.6万
• 依托单位: Hospital for Sick Children (Toronto)
• 依托单位国家: 加拿大
• 项目类别: Operating Grants
• 财政年份: 2016
• 资助国家: 加拿大
• 起止时间: 2016-05-01 至 2018-05-01
• 项目状态: 已结题
• 来源: https://webapps.cihr-irsc.gc.ca/decisions/p/project_details.html?applId=350582&lang=en
• 关键词: Calcium Isotope Absorption Studies; Children With Hypercalcemia Caused By Cyp24a1 Mutations; Liquid Chromatography-Ms Of Vitamin D Metabolites; Phase 1 Proof Of Principle Trial; Repurposing Rifampin For Children With Hypercalcemia; Sequencing Of Cyp24a1

High serum calcium levels are uncommon in children but important because they make the child ill and in the long-term can result in kidney stones. Recently, a change in one of the genes that breaks down the active form of vitamin D has been discovered in

高血清钙水平在儿童中并不常见，但很重要，因为它们会使儿童生病，长期可能导致肾结石。最近，一种分解活性维生素D的基因发生了变化，