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Singh P, Granberg CF, Harris PC, et al. Primary Hyperoxaluria Type 3 Can Also Result in Kidney Failure: A Case Report. Am J Kidney Dis. 2021;79(1):125-128doi: 10.1053/j.ajkd.2021.05.016.
Singh, P., Granberg, C. F., Harris, P. C., Lieske, J. C., Licht, J. H., Weiss, A., & Milliner, D. S. (2022). Primary Hyperoxaluria Type 3 Can Also Result in Kidney Failure: A Case Report. American journal of kidney diseases : the official journal of the National Kidney Foundation, 79(1), 125-128. https://doi.org/10.1053/j.ajkd.2021.05.016
Singh, Prince, et al. "Primary Hyperoxaluria Type 3 Can Also Result in Kidney Failure: A Case Report." American journal of kidney diseases : the official journal of the National Kidney Foundation vol. 79,1 (2022): 125-128. doi: https://doi.org/10.1053/j.ajkd.2021.05.016
Singh P, Granberg CF, Harris PC, Lieske JC, Licht JH, Weiss A, Milliner DS. Primary Hyperoxaluria Type 3 Can Also Result in Kidney Failure: A Case Report. Am J Kidney Dis. 2022 Jan;79(1):125-128. doi: 10.1053/j.ajkd.2021.05.016. Epub 2021 Jul 07. PMID: 34245816.
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Am J Kidney Dis. 2022 Jan;79(1):125-128. doi: 10.1053/j.ajkd.2021.05.016. Epub 2021 Jul 07.

Primary Hyperoxaluria Type 3 Can Also Result in Kidney Failure: A Case Report.

American journal of kidney diseases : the official journal of the National Kidney Foundation

Prince Singh, Candace F Granberg, Peter C Harris, John C Lieske, Jeffrey H Licht, Andrew Weiss, Dawn S Milliner

Affiliations

  1. Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN.
  2. Department of Urology, Mayo Clinic, Rochester, MN.
  3. Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN.
  4. Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
  5. Nephrology Associates of Yakima, Yakima, WA.
  6. Virginia Mason Nephrology, Seattle, WA.
  7. Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN; Division of Pediatric Nephrology and Hypertension, Mayo Clinic, Rochester, MN. Electronic address: [email protected].

PMID: 34245816 DOI: 10.1053/j.ajkd.2021.05.016

Abstract

Primary hyperoxaluria (PH) is a group of genetic disorders that result in an increased hepatic production of oxalate. PH type 3 (PH3) is the most recently identified subtype and results from mutations in the mitochondrial 4-hydroxy-2-oxoglutarate aldolase gene (HOGA1). To date, there have been 2 cases of kidney failure reported in PH3 patients. We present a case of a young man with a history of recurrent urinary tract infections and voiding dysfunction who developed kidney failure at 33 years of age. He developed a bladder stone and bilateral staghorn calculi at 12 years of age. Initial metabolic evaluation revealed hyperoxaluria with very low urinary citrate excretion on multiple measurements for which he was placed on oral citrate supplements. Further investigation of the hyperoxaluria was not completed as the patient was lost to follow-up observation until he presented at 29 years of age with chronic kidney disease stage 4 (estimated glomerular filtration rate 24mL/min/1.73m

Copyright © 2021 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.

Keywords: Case report; PH3; hyperoxaluria; kidney failure; kidney stone; mitochondrial 4-hydroxy-2-oxoglutarate aldolase (HOGA1); mutation; oxalate; primary hyperoxaluria (PH); urinary tract infections (UTIs)

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