title: Primary hyperoxaluria: a rare but important cause of nephrolithiasis.
abstract: We report on a middle-aged man with end-stage renal failure apparently secondary to recurrent renal stones. He developed systemic oxalosis soon after commencing dialysis. The diagnosis of primary hyperoxaluria type 1 was supported by the finding of high dialysate glycolate excretion. The patient subsequently received an isolated cadaveric renal transplant, but the outcome was a rapid recurrence of oxalosis and early graft failure. Although isolated liver or renal transplantation in addition to various adjuvant measures may be considered in the early stage, combined liver-kidney transplantation remains the only definitive therapy for a patient with end-stage renal failure and systemic oxalosis due to hyperoxaluria type 1. This case illustrates the possible late presentation of primary hyperoxaluria type 1 and the poor outcome with isolated renal transplantation after the development of systemic oxalosis. One should thus have a high index of suspicion in patients with recurrent renal stones of this rare, but nevertheless important, entity.
authors.affiliation: Renal Unit, Department of Medicine and Geriatrics, Kwong Wah Hospital, 25 Waterloo Road, Hong Kong.
authors.forename: P N
authors.initials: PN
authors.lastname: Wong
authors.forename: G M W
authors.initials: GM
authors.lastname: Tong
authors.forename: K Y
authors.initials: KY
authors.lastname: Lo
authors.forename: S K
authors.initials: SK
authors.lastname: Mak
authors.forename: E L K
authors.initials: EL
authors.lastname: Law
authors.forename: A K M
authors.initials: AK
authors.lastname: Wong
mesh_terms: D006801:Humans; D006960:Hyperoxaluria, Primary / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D007668:Kidney / Q000473:pathology; D007669:Kidney Calculi / Q000209:etiology* / Q000601:surgery; D007676:Kidney Failure, Chronic / Q000209:etiology; D016030:Kidney Transplantation; D008297:Male; D008875:Middle Aged; D012008:Recurrence; D006435:Renal Dialysis; D014184:Transplantation, Homologous