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

TL;DR

A patient on hemodialysis was later diagnosed with a rare metabolic disorder causing oxalate buildup, leading to severe complications and death.

Contribution

This case highlights the delayed diagnosis of primary hyperoxaluria in a hemodialysis patient and its severe systemic consequences.

Findings

Calcium oxalate deposits were identified in bone lesions via CT-guided biopsy.

The patient developed neurological disorders and died from septic shock.

Metabolic evaluation was not performed initially, leading to delayed diagnosis.

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.

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