CYP24A1 deficiency causing persistent hypercalciuria in a stone former.
CYP24A1 deficiency causing persistent hypercalciuria in a stone former.
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CYP24A1 缺乏导致结石形成者持续性高钙尿症。
DOI：
10.1007/s40620-020-00927-6
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发表时间：
2021
影响因子：
3.4
通讯作者：
Lieske,JohnC
中科院分区：
文献类型：
--
作者：
Sy-Go,JaninaPaulaT;Zand,Ladan;Harris,PeterC;Lieske,JohnC
一位67岁的女性，患有高血压和2型糖尿病，因尿路结石病就诊。她的结石最初是在59岁时因肉眼血尿进行检查时在影像上发现的，没有发现肾钙质沉着症。虽然她从未排出过结石，但她的显著高钙尿症(358-525毫克/天)接受了低钠和蛋白质饮食加上每天25毫克氯替利酮的治疗；然而，在接下来的三年里，她的结石负担增加了。因此，在62岁时，她接受了经皮肾镜取石术，切除了1.3×1.8厘米的左肾盆结石，结石太大，无法自发排出。随后的分析显示，结石的成分是50%的一水草酸钙，20%的二水草酸钙和30%的羟基磷灰石。她的侄女有肾结石的家族史，但她的父母、三个兄弟、一个姐妹或两个孩子没有肾结石的已知病史。没有血缘关系的历史。她从来没有患过高钙血症，也没有高维生素D浓度或摄入量。由于症状性低血压，她不能耐受较大剂量的氯苯妥英酮(50毫克)。她从未服用过乙酰唑胺、托吡酯或维生素补充剂。体检并不引人注目。体重121 kg，体重指数38.62 kg/m2。实验室检查显示，持续性高钙尿症(604毫克/天)的血清钙、磷、甲状旁腺激素(PTH)和1，25-二羟基维生素D3浓度正常，但25-羟基维生素D3/24，25-二羟基维生素D3比率升高和24小时尿钙排泄(表1)。最近一次就诊时的非对比剂结石CT扫描显示了新的右肾结石的形成(图1)，表明患者的尿路结石疾病在代谢上仍然活跃。她随后接受了基因检测，被确认患有CYP24A1缺乏症。
A 67-year-old woman with hypertension and type 2 diabetes mellitus presented to the clinic for follow-up of her urinary stone disease. Her stones were initially noted on imaging during work-up for gross hematuria at age 59 with no finding of nephrocalcinosis. Although she never passed a stone, her marked hypercalciuria (358–525 mg/day) was treated with a low sodium and protein diet plus chlorthalidone 25 mg daily; nevertheless, over the next three years, her stone burden increased. As a result, at age 62, she underwent percutaneous nephrolithotomy for a 1.3× 1.8-cm left renal pelvic stone too large to spontaneously pass. Subsequent analysis revealed a stone composition of 50% calcium oxalate monohydrate, 20% calcium oxalate dihydrate, and 30% hydroxyapatite. She had a positive family history of kidney stones in a niece but no known kidney stones in her parents, three brothers, one sister, or two children. There was no history of consanguinity. She never had hypercalcemia or high vitamin D concentration or intake. She did not tolerate a higher dose of chlorthalidone (50 mg) because of symptomatic hypotension. She has never taken acetazolamide, topiramate, or vitamin supplements. Physical examination was unremarkable. Weight was 121 kg with a BMI of 38.62 kg/m2. Laboratory work-up was notable for persistent hypercalciuria (604 mg/day) with normal serum calcium, phosphorus, parathyroid hormone (PTH), and 1, 25-dihydroxy vitamin D3 concentrations but with elevated 25-OH vitamin D3/24, 25-dihydroxy vitamin D3 ratio and 24-h urine calcium excretion (Table 1). A non-contrast stone protocol CT scan at the time of the most recent visit demonstrated the formation of a new right kidney stone (Fig. 1), suggesting that the patient’s urinary stone disease remained metabolically active. She then underwent genetic testing and was confirmed to have CYP24A1 deficiency.