Primary hyperoxaluria with endstage renal failure in an infant

[Primary hyperoxaluria with endstage renal failure in an infant].

OBJECTIVE To report a case of an infant with endstage renal failure caused by primary hyperoxaluria. METHODS The review of the literature showed the rarity of the disease. In France, the prevalence is about 1.05/million and the incidence rate is 0.12/million/year. A survey, performed in international specialized centers in 1999, documented 78 cases in infants; in 14% of them the initial onset...

Primary hyperoxaluria in an infant

doi: 10.1007/s12519-010-0214-z ©Children's Hospital, Zhejiang University School of Medicine, China and Springer-Verlag Berlin Heidelberg 2010. All rights reserved. Background: Primary hyperoxaluria type 1 is a rare disorder caused by a defect in the hepatic metabolism of glyoxylate. Cases presenting in infancy are very uncommon and often have a severe course leading to early end-stage renal fai...

Renal graft failure due to type 1 primary hyperoxaluria.

Primary hyperoxaluria type 1 (PH1) usually presents with recurrent urolithiasis, nephrocalcinosis and progressive renal failure at a relatively young age. This report describes a patient who, due to the late onset of end-stage renal disease, had been diagnosed with PH1 only after failure of his second kidney graft. Retrospectively, his vascular problems, skeletal abnormalities and cardiac arrhy...

Successful renal transplantation in primary hyperoxaluria.

A successful live related renal transplant in a 29-year-old male patient with Type 1 primary hyperoxaluria, who remains well 32 months postoperatively, is described. The plasma oxalate and exchangeable oxalate pool before transplantation were 160 mumol/1 and 4429 mumol respectively. Since the transplant these have been greatly reduced although they remain elevated above the normal by a factor o...

Enteric hyperoxaluria and renal failure associated with lymphangiectasia.