title: Late diagnosis of primary hyperoxaluria type III.
abstract: We report the case of a 78-year-old patient with late diagnosis of hyperoxaluria type III (PH3). He developed renal failure after nephrectomy for clear cell papillary renal carcinoma and complained of recurrent urolithiasis for some 30 years, whose aetiology was never identified. Biochemical laboratory investigations of urine and urolithiasis composition revealed marked hyperoxaluria but normal concentrations of urinary glyceric and glycolic acid as well as stones of idiopathic calcium-oxalate appearance. Furthermore, the dietary survey showed excessive consumption of food supplements containing massive amounts of oxalate precursors. However, the persistence of excessive hyperoxaluria after his eating habits was changed leading us to perform molecular genetic testing. We found heterozygous mutations of the recently PH3-associated HOGA1 gene when sequencing PH genes. This is the first description of late diagnosis primary PH3 in a patient with several additional pro-lithogenic factors. This case illustrates the importance of undertaking a complete biological work-up to determine the aetiology of hyperoxaluria. This may reveal underdiagnosed primary hyperoxaluria, even in older patients.
authors.affiliation: 1 Biothérapies des Maladies Génétiques, Inflammatoires et Cancers, Université de Bordeaux, Bordeaux, France.|2 INSERM, Biothérapies des Maladies Génétiques, Inflammatoires et Cancers, Bordeaux, France.|3 Laboratoire de Biochimie, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Richard
authors.affiliation: 1 Biothérapies des Maladies Génétiques, Inflammatoires et Cancers, Université de Bordeaux, Bordeaux, France.|2 INSERM, Biothérapies des Maladies Génétiques, Inflammatoires et Cancers, Bordeaux, France.|3 Laboratoire de Biochimie, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.
authors.forename: Jean-Marc
authors.initials: JM
authors.lastname: Blouin
authors.affiliation: 4 Service de Néphrologie Pédiatrique, Centre de Référence Maladies Rénales Rares du Sud-ouest, Centre Hospitalier Universitaire de Bordeaux, Bordeaux Cedex, France.
authors.forename: Jérome
authors.initials: J
authors.lastname: Harambat
authors.affiliation: 4 Service de Néphrologie Pédiatrique, Centre de Référence Maladies Rénales Rares du Sud-ouest, Centre Hospitalier Universitaire de Bordeaux, Bordeaux Cedex, France.
authors.forename: Brigitte
authors.initials: B
authors.lastname: Llanas
authors.affiliation: 5 Département de Pharmacologie Clinique, Centre Hospitalier Universitaire de Bordeaux, France.
authors.forename: Stéphane
authors.initials: S
authors.lastname: Bouchet
authors.affiliation: 6 Service des Maladies Héréditaires du Métabolisme et Dépistage Néonatal, Centre de Biologie et Pathologie Est, CHU de Lyon, Bron, France.
authors.forename: Cécile
authors.initials: C
authors.lastname: Acquaviva
authors.affiliation: 7 Service de Néphrologie Transplantation Dialyse, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.
authors.forename: Renaud
authors.initials: R
authors.lastname: de la Faille
mesh_terms: D000368:Aged; D002292:Carcinoma, Renal Cell / Q000175:diagnosis / Q000473:pathology / Q000601:surgery; D057210:Delayed Diagnosis; D015870:Gene Expression; D005988:Glyceric Acids / Q000652:urine; D006016:Glycolates / Q000652:urine; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000652:urine; D007668:Kidney / Q000378:metabolism / Q000473:pathology / Q000601:surgery; D007680:Kidney Neoplasms / Q000175:diagnosis / Q000473:pathology / Q000601:surgery; D008297:Male; D009154:Mutation; D009392:Nephrectomy; D007652:Oxo-Acid-Lyases / Q000235:genetics* / Q000378:metabolism; D052878:Urolithiasis / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000652:urine
chemical_list: D005988:Glyceric Acids; D006016:Glycolates; C031149:glycolic acid; C042971:glyceric acid; D007652:Oxo-Acid-Lyases; C021415:4-hydroxy-2-oxoglutarate aldolase
keywords: Hyperoxaluria; infrared spectroscopy; kidney stones; lithiasis