[Adult type I primary hyperoxaluria: 2 cases confirmed by liver biopsy at end-stage renal insufficiency].
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.
Schillinger
F
F
Service de Néphrologie-Hémodialyse, CHG Troyes.
Mahmoud
M
M
Montagnac
R
R
Collin
P
P
Milcent
T
T
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
D002129:Calcium Oxalate; D000637:Transaminases; D000410:Alanine Transaminase; C019635:Alanine-glyoxylate transaminase
Hyperoxalurie primitive de type I de l'adulte: deux cas confirmés par biopsie hépatique au stade d'insuffisance rénale terminale.