title: Renal function can be impaired in children with primary hyperoxaluria type 3.
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 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.
authors.affiliation: Service de Pédiatrie, Pôle Femme-Mère-Enfant, Centre Hospitalier Universitaire d'Angers, 4 rue Larrey 49933, Angers Cedex 09, Angers, France, lise.allard@gmail.com.
authors.forename: Lise
authors.initials: L
authors.lastname: Allard
authors.forename: Pierre
authors.initials: P
authors.lastname: Cochat
authors.forename: Anne-Laure
authors.initials: AL
authors.lastname: Leclerc
authors.forename: François
authors.initials: F
authors.lastname: Cachat
authors.forename: Christine
authors.initials: C
authors.lastname: Fichtner
authors.forename: Vandréa Carla
authors.initials: VC
authors.lastname: De Souza
authors.forename: Clotilde Druck
authors.initials: CD
authors.lastname: Garcia
authors.forename: Marie-Christine
authors.initials: MC
authors.lastname: Camoin-Schweitzer
authors.forename: Marie-Alice
authors.initials: MA
authors.lastname: Macher
authors.forename: Cécile
authors.initials: C
authors.lastname: Acquaviva-Bourdain
authors.forename: Justine
authors.initials: J
authors.lastname: Bacchetta
mesh_terms: D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D005820:Genetic Testing; D005919:Glomerular Filtration Rate / Q000502:physiology*; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D007223:Infant; D007231:Infant, Newborn; D007668:Kidney / Q000503:physiopathology*; D008297:Male; D009154:Mutation; D007652:Oxo-Acid-Lyases / Q000235:genetics* / Q000378:metabolism; D012189:Retrospective Studies
chemical_list: D004247:DNA; D007652:Oxo-Acid-Lyases; C021415:4-hydroxy-2-oxoglutarate aldolase