Abstract: SA-PO846
Primary Hyperoxaluria Diagnosed After Second Kidney Transplantation and Treated With Lumasiran: Never Say Never!
Session Information
- Transplantation: Clinical - Case Reports
November 05, 2022 | Location: Exhibit Hall, Orange County Convention Center‚ West Building
Abstract Time: 10:00 AM - 12:00 PM
Category: Transplantation
- 2002 Transplantation: Clinical
Authors
- Sarkar, Mrinalini, University of California Los Angeles David Geffen School of Medicine, Los Angeles, California, United States
- Kendrick, Elizabeth A., University of California Los Angeles David Geffen School of Medicine, Los Angeles, California, United States
- Lum, Erik Lawrence, University of California Los Angeles David Geffen School of Medicine, Los Angeles, California, United States
Group or Team Name
- Connie Frank Kidney Transplant Centre
Introduction
Primary hyperoxalurias (PHs) are rare autosomal recessive caused by the functional defect of alanine-glyoxylate aminotransferase that causes overproduction of oxalate, increased urinary excretion and end-stage kidney failure via crystal aggregation, and nephrocalcinosis. PH1 is the most common and severe form with rapid progression to kidney dysfunction by young adulthood. We describe a case of a patient who received her second kidney transplant 32 years after her first and developed primary allograft dysfunction from PH1 related oxalate nephropathy.
Case Description
56 y.o. female with end stage kidney disease secondary to unclear etiology underwent Deceased donor kideny transplant (DDKT) 32 years after her first transplant for allograft dysfunction. She reported recurrent kidney stones until age16 but no further renal issues .She developed renal failure a year later and started dialysis. She denied h/o Bowel dysfunction , IBD or bowel surgeries Post transplant she continued to have AKI prompting a renal biopsy that demonstrated extensive ca oxalate crystal deposition. Her serum oxalate was 24.7 umol/L and urine oxalate was 60mg/d on a 24 hour collection. A genetic test (renasight) confirmed a homozygous pathogenic variant in the AGXT gene. She continued to be dialysis dependent post transplant for 4 months prior to starting lumasiran(RNA-I). She has been weaned off hemodialysis after 2 months of RNA-I use and is being closely monitored for recovery of graft function
Discussion
PH1 is a devastating disease especially for kidneys, leading to end-stage renal disease (ESRD) during the first 2 to 3 decades of life. Combined liver and kidney transplantation has become the treatment has been the mainstay of treatment, however newer drugs are on the horizon including lumasiran which has been tested in PH1 patients with severe kidney dysfunction, including chronic dialysis
The goal before kidney transplantation is to limit as much as possible the systemic storage of oxalateto prevent oxalate precipitation in the allograft. Early initiation of a treatment (e.g.,RNAi drugs) that corrects the metabolic defect should be considered . In PH1 patients not on dialysis and with limited systemic oxalate storage, preemptive kidney trans-plantation should be proposed as soon as possible after the correction of the metabolic defect