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Article

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

Pediatric nephrology (Berlin, Germany) - 1 Oct 2015

Allard Lise, Cochat Pierre, Leclerc Anne-Laure, Cachat François, Fichtner Christine, De Souza Vandréa Carla, Garcia Clotilde Druck, Camoin-Schweitzer Marie-Christine, Macher Marie-Alice, Acquaviva-Bourdain Cécile, Bacchetta Justine

Abstract excerpt

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...

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Identifiers

PMID: 25972204
DOI: 10.1007/s00467-015-3090-x

Genes

HOGA1

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