Primary Hyperoxaluria

Atypical Features of Primary Hyperoxaluria in End-Stage Renal Disease

“…In this situation, increased plasma oxalate levels have proven to be of value. Whilst raised plasma oxalate levels were documented in case 1 on two occasions neither value exceeded levels associated with the degree of renal failure [9], Oxalate deposits in the bone marrow aspirate has been an infrequent finding in PH [1,2], as was the case in our patients. In these cir cumstances, bone wedge biopsy or transcutaneous bone biopsy is the procedure of choice, being more represen tative than aspirate to confirm the diagnosis [14].…”

“…Whilst the diagnosis of PH is most easily confirmed by the demonstration of increased concentrations of oxa late in the urine, these may decline to within normal levels as renal function deteriorates [1,2]. However both patients were anuric.…”

“…This disorder causes endstage renal disease (ESRD) in the majority of affected persons before the age of 20 years [1], Though regular dialysis treatment partially succeeds in removing the oxalate excess [3,4], the disease almost invariably proves fatal (1,4], In the oligoanuric state, frequently associated with ESRD, oxalate excretion may decline to within normal limits making the diagnosis of PH more difficult [1,2]. It is of paramount importance to make the diagnosis before subjecting a dialysis patient to trans plantation since rapid loss of the transplanted kidney due to oxalate deposition is the usual outcome if the patient is not well dialysed prior to and after transplan tation to ensure removal of the accumulated oxalate.…”

Oxalate Creatinine Ratio in the Peritoneal Fluid of Patients with Primary Hyperoxaluria

“…Its diagnosis is im portant not only for treatment and genetic counselling, but also for kidney transplanta tion as the disease can recur in the renal allograft [1], Affected children usually present with nephrocalcinosis and nephrolithiasis, and the diagnosis is confirmed by high oxa late excretion in urine [2], With declining re nal function oxalate excretion decreases, and its urine levels are of little or no diagnostic value in patients with advanced renal failure. In such patients, diagnosis is confirmed by demonstrating biréfringent oxalate crystals in kidney, liver or bone marrow biopsy speci mens [3,4], Over a period of 3 years, we received 4 patients with oxalosis, all presenting with acute or CRF. Plain X-ray of the abdomen in patients I and 2, who were twins, was normal and the reanl ultrasound examination re vealed hyperechogenic kidneys.…”

Primary Hyperoxaluria (Glycolic Acid Variant)

“…In 1964, data on 63 typical cases, and 42 atypical cases were summarized in a review (11). Another 24 patients with the disease were presented in 1968 (16).…”