Christin Emming, Michael Hadjiafxentis, Annette Liesegang, Lukas Gampe
{"title":"[首次在患有尿酸铵性尿崩症的德国狩猎梗犬体内发现 SLC2A9:p.C188F 基因缺陷]。","authors":"Christin Emming, Michael Hadjiafxentis, Annette Liesegang, Lukas Gampe","doi":"10.1055/a-2364-2603","DOIUrl":null,"url":null,"abstract":"<p><p>A 1,5-year-old intact male German Hunting Terrier was initially presented 2018 with hematuria. An abdominal ultrasound revealed multiple hyperechogenic structures in the urinary bladder. A urinalysis indicated severe crystalluria (ammonium urate or xanthine). Following cystotomy and urinary calculus analysis, ammonium urate urolithiasis was diagnosed in 2019. The patient was tested homozygous at the <i>SLC2A9:p.C188F</i> variant, which results in severe hyperuricemia and hyperuricosuria. This case report presents the first incidence of the <i>SLC2A9:p.C188F</i> gene variant being detected in a German Hunting Terrier. Veterinary practitioners are encouraged to consider the possibility of this gene defect presenting in breeds beyond the Dalmatian.</p>","PeriodicalId":49434,"journal":{"name":"Tieraerztliche Praxis Ausgabe Kleintiere Heimtiere","volume":null,"pages":null},"PeriodicalIF":0.4000,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"[First detection of the SLC2A9:p.C188F gene defect in a German Hunting Terrier with ammonium urate urolithiasis].\",\"authors\":\"Christin Emming, Michael Hadjiafxentis, Annette Liesegang, Lukas Gampe\",\"doi\":\"10.1055/a-2364-2603\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>A 1,5-year-old intact male German Hunting Terrier was initially presented 2018 with hematuria. An abdominal ultrasound revealed multiple hyperechogenic structures in the urinary bladder. A urinalysis indicated severe crystalluria (ammonium urate or xanthine). Following cystotomy and urinary calculus analysis, ammonium urate urolithiasis was diagnosed in 2019. The patient was tested homozygous at the <i>SLC2A9:p.C188F</i> variant, which results in severe hyperuricemia and hyperuricosuria. This case report presents the first incidence of the <i>SLC2A9:p.C188F</i> gene variant being detected in a German Hunting Terrier. Veterinary practitioners are encouraged to consider the possibility of this gene defect presenting in breeds beyond the Dalmatian.</p>\",\"PeriodicalId\":49434,\"journal\":{\"name\":\"Tieraerztliche Praxis Ausgabe Kleintiere Heimtiere\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.4000,\"publicationDate\":\"2024-08-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Tieraerztliche Praxis Ausgabe Kleintiere Heimtiere\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1055/a-2364-2603\",\"RegionNum\":4,\"RegionCategory\":\"农林科学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/8/22 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"VETERINARY SCIENCES\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Tieraerztliche Praxis Ausgabe Kleintiere Heimtiere","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1055/a-2364-2603","RegionNum":4,"RegionCategory":"农林科学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/8/22 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"VETERINARY SCIENCES","Score":null,"Total":0}
[First detection of the SLC2A9:p.C188F gene defect in a German Hunting Terrier with ammonium urate urolithiasis].
A 1,5-year-old intact male German Hunting Terrier was initially presented 2018 with hematuria. An abdominal ultrasound revealed multiple hyperechogenic structures in the urinary bladder. A urinalysis indicated severe crystalluria (ammonium urate or xanthine). Following cystotomy and urinary calculus analysis, ammonium urate urolithiasis was diagnosed in 2019. The patient was tested homozygous at the SLC2A9:p.C188F variant, which results in severe hyperuricemia and hyperuricosuria. This case report presents the first incidence of the SLC2A9:p.C188F gene variant being detected in a German Hunting Terrier. Veterinary practitioners are encouraged to consider the possibility of this gene defect presenting in breeds beyond the Dalmatian.
期刊介绍:
Die Tierärztliche Praxis wendet sich mit ihren beiden Reihen als einzige veterinärmedizinische Fachzeitschrift explizit an den Großtier- bzw. Kleintierpraktiker und garantiert damit eine zielgruppengenaue Ansprache. Für den Spezialisten bietet sie Original- oder Übersichtsartikel zu neuen Therapie- und Operationsverfahren oder den Einsatz moderner bildgebender Verfahren. Der weniger spezialisierte Tierarzt oder Berufseinsteiger findet auf seinen Berufsalltag zugeschnittene praxisbezogene Beiträge in der Fortbildungsrubrik „Aus Studium und Praxis“. Mit dem hervorgehobenen „Fazit für die Praxis“ am Ende jedes Artikels verschafft sich auch der eilige Leser einen raschen Überblick über die wichtigsten Inhalte dieser modern konzipierten Fachzeitschrift mit den vielen hochwertigen, überwiegend farbigen Abbildungen. In jedem Heft ermöglicht ein ATF-anerkannter Fortbildungsartikel den Erwerb einer ATF-Stunde (Akademie für tierärztliche Fortbildung).