title: [Adult type I primary hyperoxaluria: 2 cases confirmed by liver biopsy at end-stage renal insufficiency].
abstract: It can be difficult to distinguish between primary hyperoxaluria at end-stage renal failure and secondary oxalosis, all the more as primary hyperoxaluria can be latent for a long time and occur at a late stage. A 57 year-old woman, without family nor personal history of urolithiasis, receives regular hemodialysis for a renal failure discovered at end-stage. Eighteen months later, calcium oxalate deposits appear in the skin, bone marrow and both kidneys, suggesting secondary oxalosis. An other 57 year-old woman presents a chronic renal failure due to bilateral urolithiasis, whose surgery has caused a dramatic decrease of renal function requiring regular hemodialysis. Because of apparition of severe bone alterations, a parathyroidectomy is realized, and because of calcium oxalate deposition in the skin and bone marrow, primary hyperoxaluria is suspected. In both observations, the enzyme activity determination in a liver biopsy gives the diagnosis of primary hyperoxaluria.
authors.affiliation: Service de Néphrologie-Hémodialyse, CHG Troyes.
authors.forename: F
authors.initials: F
authors.lastname: Schillinger
authors.forename: M
authors.initials: M
authors.lastname: Mahmoud
authors.forename: R
authors.initials: R
authors.lastname: Montagnac
authors.forename: P
authors.initials: P
authors.lastname: Collin
authors.forename: T
authors.initials: T
authors.lastname: Milcent
mesh_terms: D000410:Alanine Transaminase / Q000172:deficiency*; D001706:Biopsy; D001853:Bone Marrow / Q000737:chemistry / Q000473:pathology; D001842:Bone and Bones / Q000473:pathology; D002129:Calcium Oxalate / Q000032:analysis; D005260:Female; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D007668:Kidney / Q000737:chemistry; D007676:Kidney Failure, Chronic / Q000150:complications* / Q000628:therapy; D008099:Liver / Q000201:enzymology*; D008875:Middle Aged; D006435:Renal Dialysis; D012867:Skin / Q000737:chemistry / Q000473:pathology; D000637:Transaminases
chemical_list: D002129:Calcium Oxalate; D000637:Transaminases; D000410:Alanine Transaminase; C019635:Alanine-glyoxylate transaminase
vernacular_title: Hyperoxalurie primitive de type I de l'adulte: deux cas confirmés par biopsie hépatique au stade d'insuffisance rénale terminale.