Introduction: Primary hyperoxaluria is an extremely rare metabolic disorder with autosomal recessive inheritance. We report the first case series in Sri Lanka which comprises of five patients, referred for the management of nephrocalcinosis or end stage renal failure.Case presentation: Cohort consisted of five patients of Asian origin, three males, with a mean age of 26 (range 15-42). They had mean serum creatinine level of 473µmol/l (range 78-1435). Mean age of first symptom was 15.4 years (range 8-26). Primary hyperoxaluria type 1 was diagnosed, and confirmed genetically in all of them. One subject, who had a rare mutation, had normal urinary excretion of oxalate, and was a product of a consanguineous marriage, oxalosis involving heart, bone, vessels and joints were observed in three subjects. One developed complete heart block, a novel finding, as a result of severe cardiac oxalosis. Primary hyperoxaluria type 1 is commoner than types 2 and 3, and is due to defective enzyme activity of the liver, resulting in overproduction of oxalic acid. Diagnosis is by estimation of urinary oxalate excretion, but false negatives are common in end stage renal disease. The cohort of patients developed end stage renal failure in early 20s, similar to previous series. Maintaining high urine output, low oxalate diet, oral citrate and high dose pyridoxine are mainstay of conservative treatment. Definitive treatment is liver transplantation, and liverkidney in the case of end stage renal failure.
Conclusion:Primary hyperoxaluria is a notoriously difficult disease to diagnose and manage. Even after successful renal transplant, oxalate deposition can damage the allograft.