Frischknecht Lukas, von Rappard Joscha
, Luzern, Schweiz.
MMW Fortschr Med. 2020 Nov;162(Suppl 7):15-18. doi: 10.1007/s15006-020-4502-9.
A 58-year-old woman presented with a symptomatic, hypertensive crisis, acute kidney failure AKIN2 and a severe hypercalcemia. The parathyroid hormone levels were in the lower normal range with highly elevated Vitamin D levels. For more than half a year she was taking 100'000 IU Vitamin D daily. Under volume loading, calcium-low-diet, Denosumab for blocking calcium resorption from bone and Ketoconazol to inhibit activation of Vitamin D a normalization of the calcium levels as well as an improvement of renal function could be observed. Loss-of-function mutations in the genes CYP24A1 and SLC34A1, involved in vitamin D metabolism leading to hypercalcemia could not be found in this patient.
一名58岁女性出现症状性高血压危象、急性肾衰竭（急性肾损伤2期）和严重高钙血症。甲状旁腺激素水平处于正常低限，而维生素D水平显著升高。她每天服用100000 IU维生素D已超过半年。在进行容量负荷、低钙饮食、使用地诺单抗阻止骨钙重吸收以及酮康唑抑制维生素D活化后，可观察到钙水平恢复正常以及肾功能改善。该患者未发现参与维生素D代谢导致高钙血症的CYP24A1和SLC34A1基因的功能丧失突变。
