A Case Report of Primary Hyperoxaluria Type 1 Diagnosed in a Geriatric Patient Receiving Dialysis: Unique Clinical Course With Lumasiran.
- 1Division of Nephrology, Department of Medicine, University of California San Francisco, CA.
- 2Department of Urology, University of California San Francisco, CA.
Abstract
Primary hyperoxaluria type 1 (PH1) is a rare inherited disorder that typically presents in childhood and often progresses to kidney failure. We report an 83-year-old woman with kidney failure of unknown etiology, recurrent calcium oxalate nephrolithiasis beginning at age 50, and a family history of nephrolithiasis and kidney failure. After starting hemodialysis, evaluation revealed marked hyperoxaluria (194 mg/d), elevated plasma oxalate (34 μmol/L), and homozygous AGXT p.Pro11Arg mutations consistent with PH1. Treatment with pyridoxine and lumasiran was initiated. Five months later, approximately one year after dialysis initiation, the patient discontinued hemodialysis because of post-dialysis fatigue. During 12 months of follow-up, dialysis was not required, creatinine clearance remained 19 mL/min, plasma oxalate normalized or remained near normal, and stone burden remained stable. To our knowledge, this is the first reported non-transplanted PH1 patient to successfully discontinue hemodialysis following lumasiran therapy, highlighting the potential benefit of RNA interference therapy even in advanced disease.
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BibTeX
@article{breeggemann2026case,
title = {{A Case Report of Primary Hyperoxaluria Type 1 Diagnosed in a Geriatric Patient Receiving Dialysis: Unique Clinical Course With Lumasiran.}},
author = {Matthew C Breeggemann and Marshall L Stoller and Stephen L Gluck},
journal = {Kidney medicine},
year = {2026},
month = aug,
doi = {10.1016/j.xkme.2026.101503},
url = {https://europepmc.org/article/MED/42909132},
note = {CC BY},
}
RIS
TY - JOUR
TI - A Case Report of Primary Hyperoxaluria Type 1 Diagnosed in a Geriatric Patient Receiving Dialysis: Unique Clinical Course With Lumasiran.
AU - Matthew C Breeggemann
AU - Marshall L Stoller
AU - Stephen L Gluck
PY - 2026
DA - 2026/08/13
JO - Kidney medicine
DO - 10.1016/j.xkme.2026.101503
UR - https://europepmc.org/article/MED/42909132
AB - Primary hyperoxaluria type 1 (PH1) is a rare inherited disorder that typically presents in childhood and often progresses to kidney failure. We report an 83-year-old woman with kidney failure of unknown etiology, recurrent calcium oxalate nephrolithiasis beginning at age 50, and a family history of nephrolithiasis and kidney failure. After starting hemodialysis, evaluation revealed marked hyperoxaluria (194 mg/d), elevated plasma oxalate (34 μmol/L), and homozygous AGXT p.Pro11Arg mutations consistent with PH1. Treatment with pyridoxine and lumasiran was initiated. Five months later, approximately one year after dialysis initiation, the patient discontinued hemodialysis because of post-dialysis fatigue. During 12 months of follow-up, dialysis was not required, creatinine clearance remained 19 mL/min, plasma oxalate normalized or remained near normal, and stone burden remained stable. To our knowledge, this is the first reported non-transplanted PH1 patient to successfully discontinue hemodialysis following lumasiran therapy, highlighting the potential benefit of RNA interference therapy even in advanced disease.
SN - 2590-0595
ER -