Effect of conservative treatment on the renal outcome of children with primary hyperoxaluria type 1.
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.
Fargue
Sonia
S
Service de Pédiatrie, Centre de Référence des Maladies Rénales Rares, Hospices Civils de Lyon and Université Lyon 1, Lyon, France.
Harambat
Jérôme
J
Gagnadoux
Marie-France
MF
Tsimaratos
Michel
M
Janssen
Françoise
F
Llanas
Brigitte
B
Berthélémé
Jean-Pierre
JP
Boudailliez
Bernard
B
Champion
Gérard
G
Guyot
Claude
C
Macher
Marie-Alice
MA
Nivet
Hubert
H
Ranchin
Bruno
B
Salomon
Rémi
R
Taque
Sophie
S
Rolland
Marie-Odile
MO
Cochat
Pierre
P
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