Limited Treatment Options in Primary Hyperoxaluria with Renal Failure

Case Rep Nephrol Dial. 2020 Oct 5;10(3):104-108. doi: 10.1159/000510143. eCollection 2020 Sep-Dec.

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.

Publication types

  • Case Reports