Renal function can be impaired in children with primary hyperoxaluria type 3.

Détails

ID Serval
serval:BIB_FFDFF9C7BD0C
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Renal function can be impaired in children with primary hyperoxaluria type 3.
Périodique
Pediatric Nephrology
Auteur(s)
Allard L., Cochat P., Leclerc A.L., Cachat F., Fichtner C., De Souza V.C., Garcia C.D., Camoin-Schweitzer M.C., Macher M.A., Acquaviva-Bourdain C., Bacchetta J.
ISSN
1432-198X (Electronic)
ISSN-L
0931-041X
Statut éditorial
Publié
Date de publication
2015
Peer-reviewed
Oui
Volume
30
Numéro
10
Pages
1807-1813
Langue
anglais
Résumé
BACKGROUND: Primary hyperoxaluria type 3 (PH3) is characterized by mutations in the 4-hydroxy-2-oxoglutarate aldolase (HOGA1) gene. PH3 patients are believed to present with a less severe phenotype than those with PH1 and PH2, but the clinical characteristics of PH3 patients have yet to be defined in sufficient detail. The aim of this study was to report our experience with PH3.
METHODS: Genetic analysis of HOGA1 was performed in patients with a high clinical suspicion of PH after the presence of mutations in the alanine-glyoxylate aminotransferase gene had been ruled out. Clinical, biochemical and genetic data of the seven patients identified with HOGA1 mutations were subsequently retrospectively reviewed.
RESULTS: Among the seven patients identified with HOGA1 mutations the median onset of clinical symptoms was 1.8 (range 0.4-9.8) years. Five patients initially presented with urolithiasis, and two other patients presented with urinary tract infection. All patients experienced persistent hyperoxaluria. Seven mutations were found in HOGA1, including two previously unreported ones, c.834 + 1G > T and c.3G > A. At last follow-up, two patients had impaired renal function based on estimated glomerular filtration rates (GFRs) of 77 and 83 mL/min per 1.73 m(2), respectively.
CONCLUSIONS: We found that the GFR was significantly impaired in two of our seven patients with PH3 diagnosed during childhood. This finding is in contrast to the early-impaired renal function in PH1 and PH2 and appears to refute to preliminary reassuring data on renal function in PH3.
Pubmed
Web of science
Création de la notice
11/09/2015 14:13
Dernière modification de la notice
20/08/2019 16:30
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