REGULATION OF MINERAL METABOLISM

矿物质代谢的调节

• 批准号: 3964764
• 负责人: S J MARX
• 金额: --
• 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/3964764
• 关键词: calcium disorder; calcium metabolism; endocrine neoplasm; homozygote; hormone regulation /control mechanism; hypercalcemia; hypercalciuria; pancreatic islet disorder; parathyroid disorder

Disorders of mineral metabolism have been evaluated with methods extending from epidemiology to cellular biology. Two forms of familial hyperparathyroidism have been characterized in detail. Familial hypocalciuric hypercalcemia is an autosomal dominant trait associated with abnormal interactions with calcium in parathyroid and kidney. Parathyroid cells from a presumed FHH homozygote showed a strikingly decreased sensitivity to secretory suppression by calcium. Familial multiple endocrine neoplasia type 1 is an autosomal dominant trait causing hyperfunction of parathyroids, pancreatic islet, and anterior pituitary. It is associated with gradual but abnormal proliferation of the tissues affected. Plasma from affected persons shows high mitogenic activity upon cultured bovine parathyroid cells.

用扩展的方法评估矿物质代谢紊乱。 从流行病学到细胞生物学。两种形式的家庭关系 甲状旁腺机能亢进症已被详细描述。家族性 低钙尿性高钙血症是一种常染色体显性性状，与 甲状旁腺和肾脏与钙的异常相互作用。甲状旁腺 推测为FHH纯合子的细胞显示出显著的减少 对钙的分泌抑制敏感。家族性多发性 内分泌肿瘤1型是一种常染色体显性遗传性状，导致 甲状旁腺功能亢进、胰岛功能亢进、垂体前叶功能亢进。 它与逐渐但不正常的组织增殖有关。 受影响。患者的血浆表现出很高的有丝分裂活性 培养的牛甲状旁腺细胞。