[Primary hyperoxaluria].
Primary hyperoxalurias are inborn errors of metabolism with recessive autosomal transmission. Type 1 is due to the deficiency of the hepatic-specific peroxisomal enzyme alanine: glyoxylate aminotransferase, and type 2 to that of the glyoxylate reductase/D-glycerate dehydrogenase, present in the cytosol of hepatocytes and leucocytes. Type 3 is due to increased intestinal absorption of oxalate of unknown pathophysiology. In the 3 types, increased oxalate load may lead to systemic oxalosis when glomerular filtration rate decreases below 30 ml/min/1.73 m2, calcium oxalate saturation occurring in plasma when oxalate level approximates 50 mumol/l. High fluid intake and long-term co-administration of pyridoxine and orthophosphate could perhaps efficiently prevent renal failure in a majority of patients. However, combined liver-kidney transplantation presently constitutes the most adequate therapy of end-stage renal failure in type 1 and perhaps in type 2 hyperoxaluria.
Toussaint
C
C
Département médico-chirurgical de néphrologie, dialyse et transplantation, Cliniques universitaires de Bruxelles, Hôpital Erasme, Bruxelles.
De Pauw
L
L
D002648:Child; D002675:Child, Preschool; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000175:diagnosis / Q000201:enzymology / Q000453:epidemiology / Q000628:therapy; D007223:Infant; D016030:Kidney Transplantation; D016031:Liver Transplantation; D011296:Prenatal Diagnosis; D006435:Renal Dialysis
Les hyperoxaluries primitives.