Primary hyperoxaluria: a rare but important cause of nephrolithiasis.
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.
Wong
P N
PN
Renal Unit, Department of Medicine and Geriatrics, Kwong Wah Hospital, 25 Waterloo Road, Hong Kong.
Tong
G M W
GM
Lo
K Y
KY
Mak
S K
SK
Law
E L K
EL
Wong
A K M
AK
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