Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2020 Oct 5;10(3):104-108.
doi: 10.1159/000510143. eCollection 2020 Sep-Dec.

Limited Treatment Options in Primary Hyperoxaluria with Renal Failure

Kyle Geiger  1 , Henry Mroch  1   2
Affiliations
Case Reports

Limited Treatment Options in Primary Hyperoxaluria with Renal Failure

Kyle Geiger et al. Case Rep Nephrol Dial. .

Abstract

Primary hyperoxaluria (PH) is a rare autosomal recessive metabolic disorder where serum oxalate levels rise due to overproduction. The kidney tubule is a main target for oxalate deposition, resulting in damage to the organ. Kidney failure is rare in these patients. We present a 67-year-old female with hemodialysis-dependent end-stage renal disease likely due to PH type 2 or 3. With extremely high levels of serum oxalate (60.4 μmol/L), this patient had minimal treatment options for her rare disease. This report details a unique presentation of a rare disease where kidney biopsy was instrumental.

Keywords: Chronic hemodialysis; Chronic renal failure; Genetic diseases; Primary hyperoxaluria; Renal biopsy.

PubMed Disclaimer

Conflict of interest statement

The authors have no conflicts of interest to declare.

Figures

Fig. 1
Fig. 1
Kidney biopsy specimen findings at 400× magnification with hematoxylin and eosin stain showing oxalate deposition (arrows) and tubular atrophy.
Fig. 2
Fig. 2
Kidney biopsy specimen findings at 400× magnification with trichome stain demonstrating diffuse fibrosis.
See this image and copyright information in PMC

References

    1. Bouzidi H, Majdoub A, Daudon M, Najjar MF. [Primary hyperoxaluria: A review] Nephrol Ther. 2016 Nov;12((6)):431–6. - PubMed
    1. Genetics Home Reference Primary hyperoxaluria. https://ghr.nlm.nih.gov/condition/primary-hyperoxaluria(accessed Mar. 11, 2020)
    1. Kasidas GP, Rose GA. Measurement of plasma oxalate in healthy subjects and in patients with chronic renal failure using immobilised oxalate oxidase. Clin Chim Acta. 1986 Jan;154((1)):49–58. - PubMed
    1. Cai R, Lin M, Chen Z, Lai Y, Huang X, Zhao G, et al. Primary hyperoxaluria diagnosed after kidney transplantation failure: lesson from 3 case reports and literature review. BMC Nephrol. 2019 Jun;20((1)):224. - PMC - PubMed
    1. Giafi CF, Rumsby G. Kinetic analysis and tissue distribution of human D-glycerate dehydrogenase/glyoxylate reductase and its relevance to the diagnosis of primary hyperoxaluria type 2. Ann Clin Biochem. 1998 Jan;35((Pt 1)):104–9. - PubMed

Publication types