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

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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.

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Disclosures

PC is an expert and principal investigator for Oxthera company.

Author information

Authors and Affiliations

  1. Service de Pédiatrie, Pôle Femme-Mère-Enfant, Centre Hospitalier Universitaire d’Angers, 4 rue Larrey 49933, Angers Cedex 09, Angers, France

    Lise Allard

  2. Institut de Génomique Fonctionnelle de Lyon, Ecole Normale Supérieure, Lyon, France

    Lise Allard & Justine Bacchetta

  3. Centre de Référence des Maladies Rénales Rares Néphrogones, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, Lyon, France

    Pierre Cochat, Anne-Laure Leclerc & Justine Bacchetta

  4. Université Claude-Bernard Lyon 1, Lyon, France

    Pierre Cochat, Anne-Laure Leclerc & Justine Bacchetta

  5. Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland

    François Cachat

  6. Centre Hospitalier Universitaire de Saint-Etienne, Saint-Etienne, France

    Christine Fichtner

  7. Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil

    Vandréa Carla De Souza

  8. Universidade de Caxias do Sul, Caxias do Sul, Brazil

    Vandréa Carla De Souza

  9. Pediatric Nephrology Unit, Hospital da Criança Santo Antônio, Porto Alegre, Brazil

    Vandréa Carla De Souza & Clotilde Druck Garcia

  10. Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil

    Clotilde Druck Garcia

  11. Service de Néphrologie Pédiatrique, Hôpital d’Enfants, Nancy, France

    Marie-Christine Camoin-Schweitzer

  12. Service de Néphrologie Pédiatrique, Hôpital Robert Debré, Assistance publique–Hôpitaux de Paris (AP-HP), Paris, France

    Marie-Alice Macher

  13. Service Maladies Héréditaires du Métabolisme, Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, Lyon, France

    Cécile Acquaviva-Bourdain

Authors
  1. Lise Allard
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  2. Pierre Cochat
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  3. Anne-Laure Leclerc
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  4. François Cachat
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  5. Christine Fichtner
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  6. Vandréa Carla De Souza
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  7. Clotilde Druck Garcia
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  8. Marie-Christine Camoin-Schweitzer
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  9. Marie-Alice Macher
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  10. Cécile Acquaviva-Bourdain
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  11. Justine Bacchetta
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Corresponding author

Correspondence to Lise Allard.

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Allard, L., Cochat, P., Leclerc, AL. et al. Renal function can be impaired in children with primary hyperoxaluria type 3. Pediatr Nephrol 30, 1807–1813 (2015). https://doi.org/10.1007/s00467-015-3090-x

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  • DOI: https://doi.org/10.1007/s00467-015-3090-x

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