Refractory Anaemia With Hyperoxalurea - Refractory Anaemia With Hyperoxalurea - Open Access Pub

We report 2 cases of primary hyperoxalurea who presented with refractory anaemia, nephrolithiasis, renal failure warranting repeated renal transplantation in one of the cases. Renal biopsy of the patients revealed crystals of calcium oxalate in the tubules. The same crystals were also visualized in bone marrow biopsy which confirmed the diagnosis of systemic oxalosis. We conclude that Primary hyperoxalurea may rarely cause anemia secondary to calcium oxalate crystal deposition in the bone marrow. DOI10.14302/issn.2574-4488.jna-14-614 Primary hyperoxalureas (PHs) are rare inborn errors of glyoxylate metabolism characterized by the overproduction of oxalate, predisposing to hyperoxalurea. Long-standing and unattended hyperoxaluria can progressively impair renal functions, and ultimately lead to renal failure.1, 2Once renal failure occurs, blood oxalate concentrations rise and precipitation occurs throughout the body. This stage is termed “oxalosis.” The common extra renal sites of oxalate deposition are the bones, bone marrow, blood vessels, central nervous system, peripheral nerves, retina, skin, and thyroid. 3 Renal Failure that ensues in due course of time in almost all the patients of oxalosis, is generally associated with anaemia. Deposition of oxalates in the bone marrow further aggravates anemia and other cytopenias may also be seen.4 Here we report the 2 cases of hyperoxalurea who presented with progressive anaemia not responding to therapy with iron, vitamin B12 or folic acid supplements. Their renal biopsies revealed characteristic oxalate crystals (whewellite crystals). Their bone marrow biopsy demonstrated systemic oxalosis due to underlying PH. Case Report I A 30 years old male, resident of Lahore was admitted for opinion regarding the necessity for regular hemodialysis after rejection of second renal transplant. Family history was suggestive of hereditary disease as two of his sisters had died of nephrocalcinosis leading to chronic renal failure at the age of 4 years. Consanguineous marriages in past many generations were also reported. Three cousins of the patient had recurrent stones with normal kidney functions. His past history revealed retention of urine at the age of 5 years due to stone in urethra. Patient presented again after 20 years in 2008 with retention of urine which was relieved by catheterization. Renal ultrasound and X ray KUB reported normal kidneys in both instances. Work up for stone formation was not undertaken at that time. The patient was put on hemodialysis and was planned for transplant which was undertaken in May