title: Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment.
abstract: Primary hyperoxaluria Type 1 is a rare autosomal recessive inborn error of glyoxylate metabolism, caused by a deficiency of the liver-specific enzyme alanine:glyoxylate aminotransferase. The disorder results in overproduction and excessive urinary excretion of oxalate, causing recurrent urolithiasis and nephrocalcinosis. As glomerular filtration rate declines due to progressive renal involvement, oxalate accumulates leading to systemic oxalosis. The diagnosis is based on clinical and sonographic findings, urine oxalate assessment, enzymology and/or DNA analysis. Early initiation of conservative treatment (high fluid intake, pyridoxine, inhibitors of calcium oxalate crystallization) aims at maintaining renal function. In chronic kidney disease Stages 4 and 5, the best outcomes to date were achieved with combined liver-kidney transplantation.
authors.affiliation: Reference Center for Rare Renal Diseases & EPICIME, Department of Paediatrics, Hospices Civils de Lyon and Université Claude-Bernard Lyon 1, Lyon, France. pierre.cochat@chu-lyon.fr
authors.forename: Pierre
authors.initials: P
authors.lastname: Cochat
authors.forename: Sally-Anne
authors.initials: SA
authors.lastname: Hulton
authors.forename: Cécile
authors.initials: C
authors.lastname: Acquaviva
authors.forename: Christopher J
authors.initials: CJ
authors.lastname: Danpure
authors.forename: Michel
authors.initials: M
authors.lastname: Daudon
authors.forename: Mario
authors.initials: M
authors.lastname: De Marchi
authors.forename: Sonia
authors.initials: S
authors.lastname: Fargue
authors.forename: Jaap
authors.initials: J
authors.lastname: Groothoff
authors.forename: Jérôme
authors.initials: J
authors.lastname: Harambat
authors.forename: Bernd
authors.initials: B
authors.lastname: Hoppe
authors.forename: Neville V
authors.initials: NV
authors.lastname: Jamieson
authors.forename: Markus J
authors.initials: MJ
authors.lastname: Kemper
authors.forename: Giorgia
authors.initials: G
authors.lastname: Mandrile
authors.forename: Martino
authors.initials: M
authors.lastname: Marangella
authors.forename: Stefano
authors.initials: S
authors.lastname: Picca
authors.forename: Gill
authors.initials: G
authors.lastname: Rumsby
authors.forename: Eduardo
authors.initials: E
authors.lastname: Salido
authors.forename: Michael
authors.initials: M
authors.lastname: Straub
authors.forename: Christiaan S
authors.initials: CS
authors.lastname: van Woerden
mesh_terms: D005440:Fluid Therapy; D005820:Genetic Testing; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000175:diagnosis* / Q000378:metabolism / Q000628:therapy*; D007668:Kidney / Q000000981:diagnostic imaging; D016030:Kidney Transplantation; D009154:Mutation / Q000235:genetics*; D010070:Oxalates / Q000378:metabolism; D019357:Potassium Citrate / Q000627:therapeutic use; D000637:Transaminases / Q000235:genetics*; D014463:Ultrasonography; D025101:Vitamin B 6 / Q000627:therapeutic use
chemical_list: D010070:Oxalates; D025101:Vitamin B 6; D000637:Transaminases; C019635:Alanine-glyoxylate transaminase; D019357:Potassium Citrate