title: Effect of conservative treatment on the renal outcome of children with primary hyperoxaluria type 1.
abstract: Primary hyperoxaluria type 1 results from alanine:glyoxylate aminotransferase deficiency. Due to genotype/phenotype heterogeneity in this autosomal recessive disorder, the renal outcome is difficult to predict in these patients and the long-term impact of conservative management in children is unknown. We report here a multicenter retrospective study on the renal outcome in 27 affected children whose biological diagnosis was based on either decreased enzyme activity or identification of mutations in the patient or his siblings. The median age at first symptoms was 2.4 years while that at initiation of conservative treatment was 4.1 years; 6 children were diagnosed upon family screening. The median follow-up was 8.7 years. At diagnosis, 15 patients had an estimated glomerular filtration rate (eGFR) below 90, and 7 children already had stage 2-3 chronic kidney disease. The median baseline eGFR was 74, which rose to 114 with management in the 22 patients who did not require renal replacement therapy. Overall, 20 patients had a stable eGFR, however, 7 exhibited a decline in eGFR of over 20 during the study period. In a Cox regression model, the only variable significantly associated with deterioration of renal function was therapeutic delay with a relative risk of 1.7 per year. Our study strongly suggests that early and aggressive conservative management may preserve renal function of compliant children with this disorder, thereby avoiding dialysis and postponing transplantation.
authors: Service de Pédiatrie, Centre de Référence des Maladies Rénales Rares, Hospices Civils de Lyon and Université Lyon 1, Lyon, France.
authors: Sonia
authors: S
authors: Fargue
authors: Jérôme
authors: J
authors: Harambat
authors: Marie-France
authors: MF
authors: Gagnadoux
authors: Michel
authors: M
authors: Tsimaratos
authors: Françoise
authors: F
authors: Janssen
authors: Brigitte
authors: B
authors: Llanas
authors: Jean-Pierre
authors: JP
authors: Berthélémé
authors: Bernard
authors: B
authors: Boudailliez
authors: Gérard
authors: G
authors: Champion
authors: Claude
authors: C
authors: Guyot
authors: Marie-Alice
authors: MA
authors: Macher
authors: Hubert
authors: H
authors: Nivet
authors: Bruno
authors: B
authors: Ranchin
authors: Rémi
authors: R
authors: Salomon
authors: Sophie
authors: S
authors: Taque
authors: Marie-Odile
authors: MO
authors: Rolland
authors: Pierre
authors: P
authors: Cochat
mesh_terms: D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D019468:Disease Management; D005919:Glomerular Filtration Rate; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000150:complications* / Q000175:diagnosis / Q000628:therapy*; D007674:Kidney Diseases / Q000209:etiology / Q000503:physiopathology / Q000517:prevention & control*; D012189:Retrospective Studies