[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]。

IF 0.4 4区农林科学 Q4 VETERINARY SCIENCES

Tieraerztliche Praxis Ausgabe Kleintiere Heimtiere Pub Date : 2024-08-01 Epub Date: 2024-08-22 DOI:10.1055/a-2364-2603

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":"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.","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\":\"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.\",\"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}

引用次数: 0

摘要

2018 年，一名 1.5 岁的完整雄性德国狩猎梗犬最初因血尿就诊。腹部超声波检查发现膀胱内有多个高回声结构。尿液分析显示有严重的结晶尿（尿酸铵或黄嘌呤）。经过膀胱切开术和尿结石分析，2019 年确诊为尿酸铵性尿路结石。经检测，该患者为SLC2A9:p.C188F变异型的同卵双生者，会导致严重的高尿酸血症和高尿酸尿症。本病例报告是首次在德国狩猎梗中检测到 SLC2A9:p.C188F 基因变异。我们鼓励兽医从业人员考虑在大麦町犬以外的犬种中出现这种基因缺陷的可能性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

[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.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Tieraerztliche Praxis Ausgabe Kleintiere Heimtiere Veterinary-Small Animals

CiteScore

0.80

自引率

16.70%

发文量

108

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).