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Pediatric Nephrology

, Volume 30, Issue 10, pp 1807–1813 | Cite as

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

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

Abstract

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 m2, 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.

Keywords

Primary hyperoxaluria type 3 Pediatrics HOGA1 Chronic kidney disease 

Notes

Disclosures

PC is an expert and principal investigator for Oxthera company.

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Copyright information

© IPNA 2015

Authors and Affiliations

  • Lise Allard
    • 1
    • 2
  • Pierre Cochat
    • 3
    • 4
  • Anne-Laure Leclerc
    • 3
    • 4
  • François Cachat
    • 5
  • Christine Fichtner
    • 6
  • Vandréa Carla De Souza
    • 7
    • 8
    • 9
  • Clotilde Druck Garcia
    • 9
    • 10
  • Marie-Christine Camoin-Schweitzer
    • 11
  • Marie-Alice Macher
    • 12
  • Cécile Acquaviva-Bourdain
    • 13
  • Justine Bacchetta
    • 2
    • 3
    • 4
  1. 1.Service de Pédiatrie, Pôle Femme-Mère-EnfantCentre Hospitalier Universitaire d’AngersAngersFrance
  2. 2.Institut de Génomique Fonctionnelle de LyonEcole Normale SupérieureLyonFrance
  3. 3.Centre de Référence des Maladies Rénales Rares Néphrogones, Hôpital Femme-Mère-Enfant Hospices Civils de LyonLyonFrance
  4. 4.Université Claude-Bernard Lyon 1LyonFrance
  5. 5.Centre Hospitalier Universitaire VaudoisLausanneSwitzerland
  6. 6.Centre Hospitalier Universitaire de Saint-EtienneSaint-EtienneFrance
  7. 7.Universidade Federal do Rio Grande do SulPorto AlegreBrazil
  8. 8.Universidade de Caxias do SulCaxias do SulBrazil
  9. 9.Pediatric Nephrology UnitHospital da Criança Santo AntônioPorto AlegreBrazil
  10. 10.Universidade Federal de Ciências da Saúde de Porto AlegrePorto AlegreBrazil
  11. 11.Service de Néphrologie PédiatriqueHôpital d’EnfantsNancyFrance
  12. 12.Service de Néphrologie Pédiatrique, Hôpital Robert DebréAssistance publique–Hôpitaux de Paris (AP-HP)ParisFrance
  13. 13.Service Maladies Héréditaires du Métabolisme, Centre de Biologie et Pathologie EstHospices Civils de LyonLyonFrance

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