Department of Urologic Surgery, UC Davis Medical Center, Sacramento, CA, USA.
Department of Urology, Mayo Clinic Arizona, Phoenix, AZ, USA.
Int Urol Nephrol. 2022 Nov;54(11):2819-2825. doi: 10.1007/s11255-022-03311-4. Epub 2022 Aug 2.
American Urology Association guidelines recommend genetic testing for patients with recurrent stones and urine oxalate > 75 mg/day. The goal of this study was to examine the treatment of patients in this category in a large multidisciplinary adult stone clinic.
Patients were evaluated from a single institution between 2006 and 2019. Those with at least one level of urinary oxalate excretion (uOx) above 75 mg/day were identified. A chart review identified enteric risk factors and genetic testing results. Patients without an identifiable enteric cause were considered idiopathic.
A total of 4229 separate 24-h urine collections in 1302 patients were reviewed. At least one measurement of uOx above 75 mg/day was found in 103 (7.9%) patients. Enteric hyperoxaluria (EH) was seen in 28 (27%) and idiopathic hyperoxaluria (IH) in 76 (74%). 20 (71%) patients in the EH group had undergone gastric bypass. The median uOx was significantly higher level in the EH group (121.0 vs. 93.0 mg/day). For the entire cohort, there was a drop in uOx (- 33.8 mg/day) with medical and dietary therapy after a follow-up of 46.6 months. The final oxalate was higher in EH (88.9 vs. 60.1 mg/day). Only one patient had referral for genetic testing and was found to have primary hyperoxaluria type 2.
The most common cause of significant hyperoxaluria in patients with recurrent nephrolithiasis remains idiopathic. Patients with IH have more significant improvement in uOx compared to EH; however, both groups had hyperoxaluria at last follow-up. Rate of genetic testing is low despite guideline recommendations.
美国泌尿外科学会指南建议对复发性结石和尿液草酸盐>75mg/天的患者进行基因检测。本研究的目的是在一个大型多学科成人结石诊所中检查该类患者的治疗情况。
对 2006 年至 2019 年期间在单一机构接受评估的患者进行评估。确定至少有一次尿液草酸盐排泄量(uOx)高于 75mg/天。通过病历回顾确定肠道危险因素和基因检测结果。没有可识别肠道病因的患者被认为是特发性的。
共回顾了 1302 名患者的 4229 份 24 小时尿液样本。发现 103 名(7.9%)患者至少有一次 uOx 高于 75mg/天。肠源性高草酸尿症(EH)见于 28 例(27%),特发性高草酸尿症(IH)见于 76 例(74%)。EH 组中有 20 名(71%)患者接受过胃旁路手术。EH 组的 uOx 中位数明显更高(121.0 比 93.0mg/天)。在整个队列中,经过 46.6 个月的随访,接受药物和饮食治疗后 uOx 下降了(-33.8mg/天)。EH 组的最终草酸盐更高(88.9 比 60.1mg/天)。只有一名患者接受了基因检测,发现患有 2 型原发性高草酸尿症。
复发性肾结石患者中,导致严重高草酸尿症的最常见原因仍然是特发性的。与 EH 相比,IH 患者的 uOx 改善更为显著;然而,两组在最后一次随访时仍存在高草酸尿症。尽管有指南建议,但基因检测的比例仍然很低。