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Natural History of Advanced Primary Hyperoxaluria Type 1: A Retrospective Study
John C Lieske1, Jaap W Groothoff2, Yaacov Frishberg3
1Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN.
Insights
Advanced primary hyperoxaluria type 1 (PH1) significantly impacts patients, leading to high rates of morbidity and mortality. This study highlights the severe natural history of PH1, emphasizing the need for better management strategies.
Area of Science:
- Nephrology
- Genetics
- Rare Diseases
Background:
- Primary hyperoxaluria type 1 (PH1) is a rare genetic disorder.
- PH1 leads to excessive oxalate production and deposition in kidneys and other organs.
- Advanced PH1 is associated with significant kidney damage and systemic complications.
Purpose of the Study:
- To characterize the natural history of advanced primary hyperoxaluria type 1 (PH1).
- To analyze outcomes in a multinational cohort of PH1 patients.
- To identify key clinical events and factors influencing morbidity and mortality in PH1.
Main Methods:
- Retrospective chart review of patients with advanced PH1.
- Inclusion criteria: ≥ 4 PH1-related visits, ≥ 6 months follow-up (or deceased), and impaired kidney function (eGFR ≤ 45 mL/min/1.73m² or elevated creatinine).
- Patients categorized into non-dialysis (Cohort A) and hemodialysis (Cohort B) groups.
Main Results:
- Seventy patients were analyzed with up to 21 years of data.
- The estimated glomerular filtration rate (eGFR) slope was -2.8 mL/min/1.73m²/year in non-dialysis patients.
- Forty-two patients underwent transplantation, and 19 patients died, with a higher mortality rate in non-transplanted individuals (39.3% vs. 19.0%).
Conclusions:
- Advanced PH1 is characterized by high rates of morbidity and mortality.
- Transplantation offers a survival benefit, but recovery from systemic oxalosis can be prolonged.
- Emergent clinical events like nephrolithiasis and fractures are common, underscoring the systemic impact of PH1.
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:
Patients, from participating medical centers in North America, Europe, and the Middle East, had ≥ 4 health care visits related to PH1 spanning ≥ 6 months (except deceased patients) on/after January 1, 2000, and ≥ 2 estimated glomerular filtration rate (eGFR) values ≤ 45 mL/min/1.73m2 (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:
Seventy patients were analyzed (up to 21 years of data; Cohort A, n = 54; Cohort B, n = 53). The median age at entry was 11.8 years (Cohort A) and 12.2 years (Cohort B). The eGFR slope was -2.8 mL/min/1.73m2/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.
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