Work

Natural History of Advanced Primary Hyperoxaluria Type 1: A Retrospective Study

Year: 2025

Type: article

Abstract: Rationale & Objective: Characterize the natural history of advanced primary hyperoxaluria type 1 (PH1) in a multinational patient cohort. Study Design: A retrospective chart review. Setting & Participants: (if age < 12 months, 2 serum creatinine values elevated for age) were included. Exposure: None (retrospective observational study). Outcomes: Kidney function, liver and/or kidney transplantation, death, plasma oxalate, systemic oxalosis, emergent clinical events, and abnormal clinical laboratory values. Analytical Approach: Patients were categorized as not on dialysis (Cohort A) and receiving hemodialysis (Cohort B). Patients could be in more than one cohort, but not during the same time. Results: /year (Cohort A). Patients underwent hemodialysis a median of 6 days/week (range, 3-7; Cohort B). Forty-two patients underwent liver and/or kidney transplantation (median age at first transplant, 15.3 years). Nineteen patients died (median age at death, 3.9 years [range, 2.2-34.9]), including 8 who received liver or liver-kidney transplants. Death occurred in 11 of 28 (39.3%) patients without transplant and 8 of 42 (19.0%) patients with transplant. Improvement in skeletal oxalosis after liver-kidney transplantation generally took > 1 year. Limited plasma oxalate and cardiac oxalosis data were available. The most common emergent clinical events were nephrolithiasis (Cohort A [nondialysis]) and fracture (Cohort B [hemodialysis]). The most commonly reported abnormal clinical laboratory values were bicarbonate, creatinine, and eGFR. Limitations: Minimal follow-up in some patients; small sample for some endpoints. Conclusions: Advanced PH1 is associated with high morbidity and mortality rates.

Source: Kidney Medicine

DOI: 10.1016/j.xkme.2025.101115