High morbidity and mortality rates found in patients with advanced PH1
Advanced primary hyperoxaluria 1 (PH1) is a severe genetic disease characterized by excessive oxalate production, leading to progressive kidney damage and systemic oxalosis, according to a study that examined the natural history of the disease.
The study, presented during Kidney Week 2023, highlights the high morbidity and mortality associated with advanced PH1, with patients facing significant challenges in managing the condition. Liver and/or kidney transplantation are frequently pursued but come with substantial risks. Early detection and improved therapeutic interventions are urgently needed to enhance the prognosis and treatment options for individuals affected by PH1.
In this multinational chart review study, data from 70 eligible patients with PH1, providing up to 21 years of information, were analyzed. The patients were categorized into 2 cohorts: Cohort A, consisting of 54 individuals not undergoing dialysis, and Cohort B, with 53 individuals undergoing hemodialysis. The median age at cohort entry was 11.8 years for Cohort A and 12.2 years for Cohort B. Notably, a significant portion of patients met entry criteria before receiving a PH1 diagnosis, highlighting the challenges in early detection.
For Cohort A, the estimated glomerular filtration rate (eGFR) slope demonstrated a decline of -2.8 mL/min/1.73m² per year. In Cohort B, patients underwent hemodialysis a median of 6 days per week, with sessions lasting 3.8 hours on average. Overall, 19 patients succumbed to the disease at a median age of 3.9 years, all of whom exhibited signs of systemic oxalosis.
Liver and/or kidney transplantation emerged as a frequent course of action, undertaken by 42 patients at least once, with the median age at first transplant being 15.3 years.
The study found that improvements in skeletal oxalosis grade after liver-kidney transplantation typically took over a year to manifest.
Reference
Lieske JC, et al. Natural History of Advanced Primary Hyperoxaluria Type 1: A Retrospective Study. Presented at: Kidney Week 2023.
