DOI: 10.36347/sjmcr.2020.v08i03.003

Pages: 273-276

Primary hyperoxaluria is a rare heredetary disease, with autosomal recessive inhertance. It’s metabolic abnormality with responsible for accumulation of calcium oxalate deposits. We report the case of a young patient, 22 years old, born of first consanguineous marriage. He is at end chronic renal disease of unknowm nephropathy. This patient has been in hemodialysis for 4 years. He presented with anemia resistant to erytropeitin associated to bone pain. The diagnosis of hyperoxaluria was suspected in the presence of urolithiais and confirmed by the presence of both ophthalmic and bone marrow calium deposit. The therapy consisted in iterative transfusions, vitamintherapy with daily hemodialysis. The follow up was stable. Waiting for combined kidney and liver transplantation.