We describe a case harboring a homozygous CYP24A1 mutation with mild loss of function, first presenting with recurrent nephrolithiasis from the age of 22 onward, initially associated with hypercalcemia and low PTH concentrations. Over the years, hyperparathyroidism developed, resulting in more severe hypercalcemia. Also, kidney function deteriorated, most probably as a consequence of biopsy-proven nephrocalcinosis. Conventional treatment options for CYP24A1 mutation were not effective and/or tolerated (avoidance of sun exposure, diet, pamidronate, itraconazole). A total parathyroidectomy was performed resulting in a normocalcemic hypoparathyroidism without need for treatment with vitamin D analogs, a positive bone mineral balance and an improved kidney function.

我们描述了一个病例，该病例具有纯合性CYP24A1突变，具有轻度功能丧失，首先从22岁开始出现复发性肾结石，最初与高钙血症和低PTH浓度有关。多年来，甲状旁腺功能亢进症发展，导致更严重的高钙血症。同样，肾功能恶化，很可能是活检证实的肾钙化病的结果。CYP24A1突变的常规治疗选择无效和/或不能耐受（避免日晒，饮食，帕米膦酸，伊曲康唑）。进行了全副甲状腺切除术，导致正常血钙不足的甲状旁腺功能减退，无需使用维生素D类似物进行治疗，骨矿物质平衡为阳性并改善了肾功能。