Primary hyperoxaluria detected by bone marrow biopsy: case report.

Area of Science:

• Nephrology and Hematology
• Rare metabolic disorders
• Oxalate nephropathy

Background:

• Primary hyperoxaluria (PH) is a rare genetic disorder caused by hepatic enzyme deficiency leading to oxalate overproduction.
• Oxalate crystal deposition typically affects kidneys, but bone marrow involvement is exceptionally rare.
• Literature reports few cases of PH diagnosed via bone marrow biopsy, with this case being unique for lacking bone lesions.

Observation:

• A 22-year-old chronic hemodialysis patient with nephrocalcinosis and a history of kidney stones presented with bone pain and anemia.
• Bone marrow biopsy revealed oxalate crystal deposits surrounded by an inflammatory reaction.
• Diagnosis of PH was established based on crystal morphology, patient history, and exclusion of secondary causes, without genetic confirmation or liver biopsy.

Findings:

• Bone marrow biopsy can be a diagnostic tool for primary hyperoxaluria, even in the absence of radiological bone lesions.
• The histological identification of oxalate crystals in bone marrow supports the diagnosis of PH.
• This case underscores the diagnostic potential of bone marrow examination in rare metabolic diseases.

Implications:

• Early diagnosis of primary hyperoxaluria is crucial, though often delayed, impacting patient outcomes.
• The lack of curative treatment options in many regions contributes to the often fatal progression of PH.
• Histological bone marrow findings can aid in diagnosing PH, particularly when definitive tests are unavailable.