Primary hyperoxaluria

Discussion:

This chronic complicated case was initially misdiagnosed as a congenital nephrocalcinosis with renal osteodystrophy due to end-stage renal disease. This results in a secondary (and potentially eventually a tertiary) hyperparathyroidism causing a generalized bony abnormality accompanied by extraosseous calcifications. Ascites was iatrogenic and due to peritoneal dialysis.

Yet, after reviewing the laboratory history of this child we found that there is a congenital disorder of oxalate metabolism. It is a rare condition and following chronic dialysis, the bone oxalosis mimics secondary hyperparathyroidism radiologically. However; the lab results of this child show a markedly elevated PTH 146 pg/mL (normal 15-65 pg/mL) denoting secondary hyperparathyroidism.

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