title: Vitamin B6 resistant primary hyperoxaluria type I. Report of 5 cases.
abstract: Primary hyperoxaluria type I (PH I) is characterized by an excessive endogenous production and excretion of oxalic and glycolic acid. Prognosis of this "inborn error of metabolism" is not favorable due to calcium-oxalate depositions in kidney and other organs. Vitamin B6 administration and/or renal transplantation can greatly improve the prognosis, as reported in literature. In this article our experience with 5 patients with vitamin B6 resistant hyperoxaluria is reported. Symptomatology and progression of the primary disease are described. The results of treatment interfering with oxalate production and calcium-oxalate crystallization are given. Three patients underwent renal replacement therapy. In these, oxalosis developed during hemodialysis and progressed following transplantation; a disabling bone disease was the most severe complication. Outcome of transplantation was disappointing. In two out of three patients, there was recurrence of the primary disease in the graft. In only one of them long-term graft function was satisfying. However, even this good function could not prevent disabling symptoms of oxalosis. Therefore, evaluation of the results of transplantation should not only include data related to graft function and survival, but also the complications due to calcium-oxalate depositions in various organs. To prevent oxalosis, kidney transplantation should be performed before end stage renal disease is achieved in patients with vitamin B6 resistant PH I.
authors.affiliation: Division of Pediatric Nephrology, Het Wilhelmina Kinderziekenhuis, University of Utrecht, The Netherlands.
authors.forename: M
authors.initials: M
authors.lastname: Streefland
authors.forename: R A
authors.initials: RA
authors.lastname: Donckerwolcke
mesh_terms: D002648:Child; D002675:Child, Preschool; D004351:Drug Resistance; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D006959:Hyperoxaluria / Q000188:drug therapy* / Q000235:genetics; D006960:Hyperoxaluria, Primary / Q000188:drug therapy*; D007223:Infant; D008297:Male; D009397:Nephrocalcinosis / Q000188:drug therapy; D011736:Pyridoxine / Q000008:administration & dosage*
chemical_list: D011736:Pyridoxine