Delayed Diagnosis of Primary Hyperoxaluria and Systemic Oxalosis in a Hemodialysis Patient: A Case Report and Literature Review.

Abstract

Primary hyperoxaluria is a rare congenital metabolic disorder characterized by excess production and accumulation of oxalate due to a hepatic enzyme deficiency. We report a rare case of a 54-year-old patient on chronic hemodialysis with initial nephropathy of lithiasic uropathy, in whom metabolic evaluation had not been performed. After six years of hemodialysis, the patient developed severe chronic pruritus, a tumoral syndrome with hepatosplenomegaly, peripheral lymphadenopathy, numerous subcutaneous masses, and diffuse bone pain. Laboratory tests revealed a profound anemia resistant to erythropoietin, severe hypoparathyroidism, and diffuse osteolytic lesions in the spine and pelvis. CT-guided biopsy of the bone lesions showed deposits of calcium oxalates. The patient's condition deteriorated with the onset of central and peripheral neurological disorders, general deterioration, and eventual death from septic shock originating from a pulmonary focus.