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Renal function can be impaired in children with primary hyperoxaluria type 3
Lise Allard1, Pierre Cochat, Anne-Laure Leclerc
1Service de Pédiatrie, Pôle Femme-Mère-Enfant, Centre Hospitalier Universitaire d'Angers, 4 rue Larrey 49933, Angers Cedex 09, Angers, France, lise.allard@gmail.com.
Primary hyperoxaluria type 3 (PH3), caused by HOGA1 gene mutations, can lead to impaired kidney function in children. This study highlights that PH3 patients may experience significant renal impairment, contrary to previous assumptions.
Area of Science:
- Nephrology
- Genetics
- Pediatrics
Background:
- Primary hyperoxaluria type 3 (PH3) is linked to mutations in the 4-hydroxy-2-oxoglutarate aldolase (HOGA1) gene.
- PH3 is often considered less severe than PH1 and PH2, but detailed clinical data are lacking.
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