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JU INSIGHT Characterization of Stone Events in Patients With Type 3 Primary Hyperoxaluria

By: Muhammad G. Arnous, MBBCh, Mayo Clinic, Rochester, Minnesota; Lisa Vaughan, MS, Mayo Clinic, Rochester, Minnesota; Ramila A. Mehta, BS, Mayo Clinic, Rochester, Minnesota; Phillip J. Schulte, PhD, Mayo Clinic, Rochester, Minnesota; John C. Lieske, MD, Mayo Clinic, Rochester, Minnesota; Dawn S. Milliner, MD, Mayo Clinic, Rochester, Minnesota | Posted on: 27 Jun 2023

Arnous MG, Vaughan L, Mehta RA, Schulte PJ, Lieske JC, Milliner DS. Characterization of stone events in patients with type 3 primary hyperoxaluria. J Urol. 2023;209(6):1141-1150.

Study Need and Importance

Primary hyperoxaluria type 3 (PH3) is a rare genetic disorder that typically results in frequently recurring symptomatic kidney stone events and possible kidney damage. However, the factors affecting stone formation and risk for kidney function loss in PH3 patients remain unclear. In this study, we investigated urine parameters associated with symptomatic stones in PH3 patients and their correlation with disease outcomes in the Rare Kidney Stone Consortium Primary Hyperoxaluria Registry.

What We Found

We found that more than 90% of the PH3 patients developed kidney stones, with a high number of symptomatic stone events throughout their lifetimes (see Figure). Calcium oxalate supersaturation was associated with an increased rate of lifetime stone events, even after adjusting for age at first event. By the fourth decade of life, PH3 patients had a lower estimated glomerular filtration rate compared to the general population.

Figure. Patient trajectories by age at each stone event, stratified by age at the first stone event quartile, among patients with at least 1 stone event (N=62). Patients are ordered by age at their first stone event. Stone event types are distinguished by shape and color, as well as age at primary hyperoxaluria (PH) diagnosis and age at the last follow-up.

Limitations

Due to the rarity of the disease, the relative recent discovery of the causative gene, and the lack of universal and affordable genetic testing, a relatively small number of patients and length of follow-up for study are possible limitations of our study.

Interpretation for Patient Care

Our results suggest that earlier genetic testing for patients with typical symptoms or a family history of PH3 is crucial in order to initiate available dietary and pharmacological treatments. There remains an urgent need for more effective therapeutic agents to reduce urinary oxalate excretion and number of stone events, and to prevent kidney damage over the lifetime of affected patients. Our evidence suggests urinary calcium oxalate supersaturation may be a promising shorter-term biomarker to judge treatment effect. Our study provides important insights into the stone disease burden of PH3 patients and highlights the need for further research in this area.

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