[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":"<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}
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
分享 分享
微信好友 朋友圈 QQ好友 复制链接
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
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).
期刊最新文献
[A malignant pilomatrixoma in the tonsillar area of a dog]. [Arthroscopic removal of the fragmented medial coronoid process in dogs - Evaluation of treatment results with special reference to postoperative computed tomography and residual particles]. [Canine sterile neutrophilic dermatosis (Sweet-like syndrome): A description of 3 cases]. [Hemophilia A in a male cat with intermittent lameness]. [Nephrectomy in a rabbit with renal adenocarcinoma].
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1