Nephrocalcinosis and Nephrolithiasis in X-Linked Hypophosphatemic Rickets: Diagnostic Imaging and Risk Factors
Nephrocalcinosis and Nephrolithiasis in X-Linked Hypophosphatemic Rickets: Diagnostic Imaging and Risk Factors
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DOI：
10.1210/js.2018-00338
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发表时间：
2019-05-01
影响因子：
4.1
通讯作者：
Martin, Regina Matsunaga
中科院分区：
文献类型：
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作者：
Colares Neto, Guido de Paula;Yamauchi, Fernando Ide;Martin, Regina Matsunaga
背景：低磷血症性佝偻病中描述了肾钙质沉着症 (NC) 和肾结石 (NL)，但 X 连锁低磷血症性佝偻病 (XLH) 中有关其患病率和代谢危险因素存在的数据很少。 目的： 确定已确诊 PHEX 突变的 XLH 患者中 NC 和 NL 的患病率及其危险因素。 方法：对 16 名儿童和 23 名儿童进行了肾脏超声检查 (US) 和 CT成人。这些图像由两名专门从事超声检查的双盲放射科医生和两名专门从事 CT 的放射科医生进行评估。 US 和 CT 均呈阳性即可确诊 NC，而 NL 则仅通过 CT 确诊。通过每位患者的 24 小时尿液样本确定是否存在高钙尿症、低柠檬酸尿症和高草酸尿症。估计肾小球滤过率。结果：15 名患者 (38.4%) 发现 NC，按年龄组分层显示儿童 NC 患病率高于成人 (56.2% vs 26.1%)。 CT 在 4 名成人 (10.2%) 中发现了 NL。与成人组相比，儿科组患者需要大量使用磷酸盐，开始治疗更早，且磷酸尿率更高（P < 0.01）。除了所有 XLH 患者均存在高磷酸盐尿之外，低柠檬酸尿是最常见的代谢因素 (28.2%)，其中两名患者出现高钙尿 (5.1%)。没有人患有高草酸尿症。大多数患者肾功能正常。结论：NC较NL更为常见。主要代谢因素是高磷酸盐尿，强化磷酸盐治疗似乎是肾脏钙化的恶化因素。版权所有 (C) 2019 内分泌学会
Context: Nephrocalcinosis (NC) and nephrolithiasis (NL) are described in hypophosphatemic rickets, but data regarding their prevalence rates and the presence of metabolic risk factors in X-linked hypophosphatemic rickets (XLH) are scarce.Objective: To determine the prevalence rates of NC and NL and their risk factors in patients with XLH with confirmed PHEX mutations.Methods: Renal ultrasonography (US) and CT were performed in 16 children and 23 adults. The images were evaluated by two blinded radiologists specializing in US and two specializing in CT. Confirmation of NC was determined with a positive result on both US and CT, whereas the diagnosis of NL was confirmed by CT alone. The presence of hypercalciuria, hypocitraturia, and hyperoxaluria was determined from 24-hour urinary samples from each patient. The glomerular filtration rate was estimated.Results: NC was identified in 15 patients (38.4%), and stratification by age group showed a higher prevalence of NC in children than in adults (56.2% vs 26.1%). CT identified NL in four adults (10.2%). Patients in the pediatric group required intensive use of phosphate, started treatment earlier, and presented greater phosphaturia than those in the adult group (P < 0.01). In addition to hyperphosphaturia, which was present in all patients with XLH, hypocitraturia was the most common metabolic factor (28.2%), where as hypercalciuria occurred in two patients (5.1%). None had hyperoxaluria. Most patients had normal renal function.Conclusions: NCwas more prevalent than NL. The main metabolic factor was hyperphosphaturia, and intensive phosphate treatment appears to be a worsening factor for kidney calcification. Copyright (C) 2019 Endocrine Society