Late onset primary hyperoxaluria after kidney transplantation in a 36-year-old woman

Abstract

Primary hyperoxaluria is a rare congenital autosomal recessive disorder disrupting the glyoxylate metabolism pathway in the liver. Type1 primary hyperoxaluria is caused by a deficiency in a specific liver enzyme namely, alanine glyoxylate-aminotransferase which catalyzes the conversion of glyoxylate to glycine. By the absence of this enzyme, glyoxylate is converted to oxalate and high oxalate level causes deposition of insoluble calcium oxalate crystals in different organs specifically kidneys. The disease usually manifested by recurrent nephrolithiasis and/or nephrocalcinosis leads to renal failure. This report describes an end-stage renal disease case of a 36-year-old Iranian woman without any history of nephrolithiasis who underwent kidney transplantation. She developed an early onset transplant kidney failure. The patient underwent kidney biopsy, which revealed oxalate nephropathy, accordingly the genetic study confirmed diagnosis of primary hyperoxaluria. This rare case shows how type 1 primary hyperoxaluria can develop after kidney transplantation without having any manifestation prior to transplantation