title: Primary portal vein hypoplasia and SLC2A9 mutation associated with urate urolithiasis in a Spanish water dog.
abstract: This report describes a Spanish water dog with an ammonium urate urethrolith which was diagnosed with primary portal vein hypoplasia and was found to be homozygous for the mutated SLC2A9 gene. This is the first Spanish water dog described with the SLC2A9 mutation and the first case of concurrent portal vascular abnormalities and SLC2A9 mutation.
authors.affiliation: Small Animal Hospital, School of Veterinary Medicine, College of Medical, Veterinary and Life Sciences, University of Glasgow, 464 Bearsden Road, Glasgow G61 1QH, Scotland.
authors.forename: Laura
authors.initials: L
authors.lastname: Cosgrove
authors.affiliation: Small Animal Hospital, School of Veterinary Medicine, College of Medical, Veterinary and Life Sciences, University of Glasgow, 464 Bearsden Road, Glasgow G61 1QH, Scotland.
authors.forename: Gawain
authors.initials: G
authors.lastname: Hammond
authors.affiliation: Small Animal Hospital, School of Veterinary Medicine, College of Medical, Veterinary and Life Sciences, University of Glasgow, 464 Bearsden Road, Glasgow G61 1QH, Scotland.
authors.forename: Gerard
authors.initials: G
authors.lastname: Mclauchlan
mesh_terms: D000818:Animals; D004283:Dog Diseases / Q000235:genetics / Q000378:metabolism* / Q000628:therapy; D004285:Dogs; D005260:Female; D051246:Glucose Transport Proteins, Facilitative / Q000235:genetics / Q000378:metabolism*; D009004:Monosaccharide Transport Proteins / Q000235:genetics / Q000378:metabolism*; D009154:Mutation; D011169:Portal Vein / Q000002:abnormalities*; D014527:Uric Acid; D052878:Urolithiasis / Q000235:genetics / Q000628:therapy / Q000662:veterinary*
chemical_list: D051246:Glucose Transport Proteins, Facilitative; D009004:Monosaccharide Transport Proteins; D014527:Uric Acid