Late presentation and microcrystalline arthropathy in primary hyperoxaluria

Area of Science:

• Nephrology
• Metabolic Disorders
• Genetics

Background:

• Primary hyperoxaluria is a rare inherited metabolic disorder characterized by excessive oxalate production.
• It leads to nephrocalcinosis, renal insufficiency, and systemic oxalosis due to calcium oxalate crystal deposition.
• Early diagnosis and treatment are crucial to prevent end-stage renal disease.

Observation:

• A 66-year-old woman presented with renal insufficiency and severe nephrocalcinosis.
• Elevated urinary oxalate excretion was noted, with secondary hyperoxaluria excluded.
• The patient developed end-stage renal disease requiring hemodialysis and exhibited aggressive arthropathy.

Findings:

• Autopsy revealed extensive calcium oxalate crystal deposits in kidneys, bone, pancreas, myocardium, and subcutaneous tissues.
• This confirmed systemic oxalosis as the cause of her multi-organ dysfunction.
• The case demonstrated classical signs of oxalosis with a late clinical presentation.

Implications:

• This case underscores that primary oxalosis can have a late clinical onset and allow for prolonged survival.
• It emphasizes the importance of considering primary hyperoxaluria in adults with unexplained nephrocalcinosis and renal failure.
• Further research into late-onset primary oxalosis is warranted to improve diagnostic and therapeutic strategies.