Etiology, urine metabolic risk factors, and urine oxalate patterns in patients with significant hyperoxaluria and recurrent nephrolithiasis.

Abstract

American Urology Association guidelines recommend genetic testing for patients with recurrent stones and urine oxalate > 75mg/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 75mg/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 75mg/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. 93.0mg/day). For the entire cohort, there was a drop in uOx (-33.8mg/day) with medical and dietary therapy after a follow-up of 46.6months. The final oxalate was higher in EH (88.9 vs. 60.1mg/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.