INITIAL MANIFESTATION OF PRIMARY HYPEROXALURIA TYPE-I IN ADULTS - RECOGNITION, DIAGNOSIS, AND MANAGEMENT

Primary hyperoxaluria type I may initially manifest as urolithiasis, r enal insufficiency, or symptoms of systemic oxalosis. This hereditary disorder was fatal until effective therapies evolved during the past t wo decades. Difficulty in recognizing and diagnosing this disorder in adults is illustrated in a report of a patient eventually restored to good health by high-flux dialysis and combined renal and hepatic trans plantation. I explore the molecular processes of the genetic defect an d discuss clinical indicators of primary hyperoxaluria type I, manifes tations of oxalosis, the pathogenesis of chronic oxalate nephropathy, and the diagnosis and management of this disease.