title: [Type 1 xanthinuria: Report on three cases].
abstract: Type 1 xanthinuria is a rare cause of urolithiasis due to xanthine dehydrogenase deficiency. Pediatric cases are exceptional. Through the genetic analysis of two cases, we discovered three mutations responsible for a loss of enzyme activity. The first one had a C.3536T>C missense mutation in the XDH gene and the other one was heterozygous for two mutations c.700+1G>T and c.31778_82delTCAT. We review the diagnostic methods, possible complications, and preventive measures for stone formation.
authors.affiliation: Service de néphrologie pédiatrique, hôpital Femme-Mère-Enfant, 59, boulevard Pinel, 69500 Bron, France. Electronic address: Margot.diss@gmail.com.
authors.forename: M
authors.initials: M
authors.lastname: Diss
authors.affiliation: Service de néphrologie pédiatrique, hôpital Femme-Mère-Enfant, 59, boulevard Pinel, 69500 Bron, France.
authors.forename: B
authors.initials: B
authors.lastname: Ranchin
authors.affiliation: Service de toxicologie et génopathies, centre de biologie pathologie génétique, centre hospitalier régional et universitaire de Lille, 59037 Lille cedex, France.
authors.forename: F
authors.initials: F
authors.lastname: Broly
authors.affiliation: Service de toxicologie et génopathies, centre de biologie pathologie génétique, centre hospitalier régional et universitaire de Lille, 59037 Lille cedex, France.
authors.forename: N
authors.initials: N
authors.lastname: Pottier
authors.affiliation: Service de néphrologie pédiatrique, hôpital Femme-Mère-Enfant, 59, boulevard Pinel, 69500 Bron, France.
authors.forename: P
authors.initials: P
authors.lastname: Cochat
mesh_terms: D002675:Child, Preschool; D006801:Humans; D007223:Infant; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics; D014968:Xanthine Dehydrogenase / Q000172:deficiency* / Q000235:genetics
chemical_list: D014968:Xanthine Dehydrogenase