Primary hyperoxaluria: clinical course, diagnosis, and treatment after kidney failure.

[primary hyperoxaluria type 1]

Primary hyperoxaluria type 1 (PH 1 ) is a rare autosomal recessive metabolic disorder resulting in the overproduction of plasma oxalate . Although the enzymatic defect is in hepatocyte peroxisomes , uncontrolled levels of oxalate result in calcium oxalate deposition in multiple organs . Because the primary route of elimination of oxalate is renal excretion , high levels are found in urine , which results in supersaturation and crystal nucleation . Patients typically present with recurrent nephrolithiasis and nephrocalcinosis . If not diagnosed early , end-stage renal disease (ESRD ) and systemic calcium oxalate deposition can occur . Once ESRD develops , intensive dialysis therapy is unable to keep pace with the high oxalate production , and the preferred therapeutic intervention is combined kidney-liver transplantation . Here , we report a young man with a history of recurrent nephrolithiasis who presented to us with ESRD and subsequently developed manifestations of systemic oxalosis . The diagnosis of PH 1 must be considered in the differential diagnosis of patients presenting with ESRD with a history of recurrent nephrolithiasis . The diagnosis of PH 1 is more challenging in patients with ESRD , for whom urinary oxalate levels are often normal or only modestly increased because of decreased glomerular filtration , and recurrent nephrolithiasis is no longer the dominant clinical feature .

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Diseases presenting "and the preferred therapeutic intervention is combined kidney-liver transplantation" symptom

primary hyperoxaluria type 1

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