PDF(Pubmed)
Abstract：
The parathyroid gland is responsible for the synthesis and secretion of parathyroid hormone, which is synthesized and released at an inverse relationship to the level of ionized calcium in the blood. Primary hyperparathyroidism affects women more than men. There are various causes for hyperparathyroidism-induced hypercalcemia and the most common cause is parathyroid adenoma. A less common cause of vitamin D-mediated parathyroid hormone-independent hypercalcemia is the loss of function mutation of the CYP24A1 gene. The CYP24A1 gene encodes the vitamin D 24-hydroxylase enzyme, responsible for hydroxylating the active form of vitamin D into an inactive form, and mutations in the CY24A1 gene can lead to elevated active vitamin D metabolite levels. It can result in hypercalcemia and hypercalciuria-related complications. We present a case of a 72-year-old male patient referred to the endocrine clinic, who had repeated treatments for hypercalcemia and recurrent renal calculi. He underwent ultrasound, computerized tomography, and sestamibi scans, all reported as normal. Following this, the patient underwent a positron emission tomography (PET) scan, which was also normal. He then finally underwent genetic testing and tested positive for the CYP24A1 gene. He was started on fluconazole 50mg once a day and cinacalcet 30mg twice with normalization of calcium level. Three of his family members also tested positive for the condition.
摘要：
甲状旁腺负责甲状旁腺激素的合成和分泌，它与血液中的离子钙水平成反比合成和释放。原发性甲状旁腺功能亢进对女性的影响大于男性。甲状旁腺功能亢进引起的高钙血症有多种原因，最常见的原因是甲状旁腺腺瘤。维生素D介导的甲状旁腺激素非依赖性高钙血症的一个不太常见的原因是CYP24A1基因的功能突变丧失。CYP24A1基因编码维生素D24-羟化酶，负责将维生素D的活性形式羟基化为非活性形式，CY24A1基因的突变可导致活性维生素D代谢物水平升高。它可导致高钙血症和高钙尿症相关并发症。我们介绍了一例72岁男性患者转诊到内分泌诊所，反复治疗高钙血症和复发性肾结石。他做了超声波检查,计算机断层扫描,和Sestamibi扫描，全部报告为正常。在此之后,患者接受了正电子发射断层扫描（PET）扫描，这也是正常的。然后，他最终接受了基因检测，CYP24A1基因检测呈阳性。他开始服用氟康唑50mg每天一次，西那卡塞30mg两次，钙水平正常化。他的三个家庭成员也对这种情况进行了阳性测试。
