Abstract: PO1316
ESKD due to Primary Hyperoxaluria Type I
Session Information
- Genetic Diseases of the Kidneys: Non-Cystic - I
November 04, 2021 | Location: On-Demand, Virtual Only
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1002 Genetic Diseases of the Kidneys: Non-Cystic
Authors
- Thorne, Peter E., Vanderbilt University Medical Center, Nashville, Tennessee, United States
- Lewis, Julia, Vanderbilt University Medical Center, Nashville, Tennessee, United States
Introduction
Primary hyperoxaluria type I (PHT1) is a rare autosomal recessive disease (less than 3 cases per million population). Nephrolithiasis and nephrocalcinosis lead to progressive renal impairment and subsequent oxalate deposition in various tissues. We present a case of PHT1 diagnosed late in life and ultimately requiring definitive management with liver-kidney transplant due to rapid progression to end stage kidney disease.
Case Description
55 year old male with history of renal calculi at birth, recurrent nephrolithiasis and PHT1 was hospitalized for acute kidney injury following 2 weeks of nausea and poor intake. His admission serum creatinine (Scr) was 11 from baseline of 3.5 four months before. He was diagnosed with PHT1 eight months prior via urinary oxalate measurement and genetic testing. He was started on low oxalate diet, calcium carbonate 1000mg with meals and pyridoxine 500mg daily. Ultrasound at admission notable for diffuse increased echogenicity and bilateral non-obstructing calculi. Initial serum oxalate level was 63.5micromol/L and 24 hour urine oxalate level was 116mg/24hrs. Scr failed to improve with intravenous fluid administration and renal replacement therapy was initiated with goal serum oxalate level of <30micromol/L. Hemodialysis was performed daily for four hours with high flux membrane. Serum oxalate levels improved to nadir of 40micromol/L. Definitive therapy with simultaneous liver-kidney transplant was ultimately pursued.
Discussion
Our patient required intensive hemodialysis while awaiting liver-kidney transplant following late diagnosis of PHT1 and development of end stage kidney disease. Early diagnosis is key to reduce morbidity and mortality. Progressive kidney impairment leads to inability to excrete the increased oxalate produced by the liver and subsequent systemic deposition of oxalate including in the kidney causing multiorgan dysfunction. Hemodialysis removes oxalate but it is difficult to consistently reduce serum oxalate levels below goal given continued production of oxalate and rebound. Early treatment options include a trial of pyridoxine, hyperhydration, low oxalate diet and novel RNA inhibitors. Patients with advanced disease often require definitive management with liver-kidney transplant. Clinicians need to have a high index of suspicion for PHT1 as patients often go undiagnosed until advanced kidney disease or end stage kidney disease has developed.