Fig. 2: Recommendations for the management of patients with suspicion of primary hyperoxaluria.
The diagnostic work-up for patients with estimated glomerular filtration rate (eGFR) >30 ml/min/1.73 m2 and suspected primary hyperoxaluria (PH) should include at least two urine oxalate assessments (preferably from a 24 h urine collection). If genetic assessment reveals a mutation consistent with vitamin B6 (VB6; also known as pyridoxine) non-responsive PH1, RNA interference (RNAi) therapy is indicated. Patients who are partially responsive to VB6 therapy may also be eligible for RNAi therapy if hyperoxaluria persists. In patients with a suspicion of PH and eGFR <30 ml/min/1.73 m2, diagnostics should include plasma oxalate assessments. If genetic assessment reveals a mutation consistent with VB6 non-responsive PH1, RNAi therapy is indicated. Patients with (partial) VB6 responsive mutations might be eligible for RNAi therapy depending on plasma oxalate levels.
