Bone marrow aspirate: a diagnostic tool for primary hyperoxaluria type 1

Type1 primary hyperoxaluria is an infrequent autosomal recessive metabolic disease characterized by the accumulation of calcium oxalate in the kidney, which leads to end stage renal disease. In fact, the diagnosis of this disease is mandatory in order to avoid graft loss.

To assess the incidence of primary hyperoxaluria and to develop the diagnostic value of bone marrow infiltration by calcium oxalate in uremic stone former patients.

This study was conducted on a cohort of stone former patients identified in the south of Tunisia over a period of 18 years. Baseline characteristics were recorded. Clinical and laboratory data were collected on chart review. Secondary forms of hyperoxaluria were excluded. Bone marrow aspirate was performed in uremic patients from this cohort because early hyperoxaluria was suspected. Diagnostic accuracy of this test relating to sensitivity, specificity, positive predictive value and negative predictive value were also calculated.

A cohort of 31 patients comprising 17 male patients and 14 female patients were identified. During this time of diagnosis, the patient's ages ranged from 9 to 57 years old and 22 of them (70%) unfortunately died. Bone marrow aspirate was safely done in 16 uremic patients. It was positive in 12 patients and negative in 4 patients. Sensitivity, specificity, positive predictive value and negative predictive value were respectively 85%, 100%, 100% and 50%.

The bone marrow examination represents both an easy and a worldwide feasible solution for the diagnosis of oxalosis, which affords an early diagnosis.