title: [Primary hyperoxaluria: A review].
abstract: Primary hyperoxalurias (PH) are inborn errors in the metabolism of glyoxalate and oxalate with recessive autosomal transmission. As a result, an increased endogenous production of oxalate leads to exessive urinary oxalate excretion. PH type 1, the most common form, is due to a deficiency of the peroxisomal enzyme alanine: Glyoxylate aminotransferase (AGT) in the liver. PH type 2 is due to the deficiency of the glyoxylate reductase/hydroxypyruvate réductase, present in the cytosol of hepatocytes and leucocytes. PH type 3 is linked to the gene HOGA1, encoding a mitochondrial enzyme, the 4-hydroxy-2-oxo-glutarate aldolase. Recurrent urolithiaisis and nephrocalcinosis are the markers of the disease. As a result, a progressive dysfunction of the kidneys is commonly observed. At the stage of severe chronic kidney disease, plasma oxalate increase leads to a systemic oxalosis. Diagnostic is often delayed and it based on stone analysis, cristalluria, oxaluria determination and DNA analysis. Early initiation of conservative treatment including high fluid intake and long-term co-administration of inhibitors of calcium oxalate crystallization and pyridoxine, could efficiently prevent end stage renal disease. In end stage renal failure, a combined liver-kidney transplantation corrects the enzyme defect.
authors.affiliation: Laboratoire de biologie médicale, CHU Taher Sfar, 5100 Mahdia, Tunisie. Electronic address: bouzidihassan@yahoo.fr.
authors.forename: Hassan
authors.initials: H
authors.lastname: Bouzidi
authors.affiliation: Faculté de médecine de Monastir, 5111 Monastir, Tunisie.
authors.forename: Ali
authors.initials: A
authors.lastname: Majdoub
authors.affiliation: Service d'exploration fonctionnelle, hôpital Tenon, AP-HP, 4, rue de la Chine, 75973 Paris cedex 20, France.
authors.forename: Michel
authors.initials: M
authors.lastname: Daudon
authors.affiliation: Laboratoire de biochimie-toxicologie, CHU Fattouma Bourguiba, 5111 Monastir, Tunisie.
authors.forename: Mohamed Fadhel
authors.initials: MF
authors.lastname: Najjar
mesh_terms: D018450:Disease Progression; D005440:Fluid Therapy / Q000379:methods; D006801:Humans; D006959:Hyperoxaluria / Q000209:etiology; D006960:Hyperoxaluria, Primary / Q000145:classification / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D007676:Kidney Failure, Chronic / Q000209:etiology; D016030:Kidney Transplantation / Q000379:methods; D016031:Liver Transplantation / Q000379:methods; D009397:Nephrocalcinosis / Q000209:etiology; D010530:Peritoneal Dialysis / Q000379:methods; D016896:Treatment Outcome; D025101:Vitamin B 6 / Q000627:therapeutic use*; D014803:Vitamin B Complex / Q000627:therapeutic use*
chemical_list: D014803:Vitamin B Complex; D025101:Vitamin B 6
keywords: Hyperoxalurie primaire; Lithiase rénale; Nephrocalcinosis; Néphrocalcinose; Oxalate; Primary hyperoxaluria; Urolithiasis