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一只边境牧羊犬的遗传性感觉和自主神经病变,奥克拉替尼对控制自残行为的作用

Inherited Sensory and Autonomic Neuropathy in a Border Collie, Interest of Oclacitinib for the Control of Self-Mutilation.

作者信息

Leonard Caroline, Van Soens Iris, Fontaine Jacques

机构信息

Department for Clinical Sciences, Faculté de Médecine Vétérinaire, University of Liege, Quartier Vallée 2, Avenue de Cureghem 3, Sart-Tilman, 4000 Liege, Belgium.

出版信息

Vet Sci. 2022 Mar 10;9(3):127. doi: 10.3390/vetsci9030127.

DOI:10.3390/vetsci9030127
PMID:35324855
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8955948/
Abstract

Sensory and autonomic neuropathy was diagnosed in a five-month-old Border Collie puppy, who presented with progressive self-mutilation, proprioceptive ataxia and urinary incontinence. In the Border Collie, sensory neuropathy is different from what is observed in acral mutilation syndrome, as the genetic mutation is linked to an inversion disrupting the gene. Diagnosis was based on history, clinical signs and genetic testing. The prognosis of sensory neuropathies is poor and no curative treatment is available. In the present case, oclacitinib was started for symptomatic treatment of the self-mutilation. A good control of the self-mutilation was quickly observed with an improvement in quality of life for five months. Unfortunately, progression of neurological signs with severe proprioceptive deficits, ataxia, muscular atrophy and urinary/fecal incontinence was observed. Five months after diagnosis, the owner elected for euthanasia.

摘要

一只五个月大的边境牧羊犬幼犬被诊断出患有感觉和自主神经病变,它出现了进行性自残、本体感觉共济失调和尿失禁的症状。在边境牧羊犬中,感觉神经病变与肢端自残综合征中观察到的情况不同,因为基因突变与一个导致基因倒位的情况有关。诊断基于病史、临床症状和基因检测。感觉神经病变的预后很差,没有治愈性的治疗方法。在本病例中,开始使用奥克拉替尼对自残进行对症治疗。很快观察到自残得到了良好控制,狗狗的生活质量在五个月内有所改善。不幸的是,出现了神经症状的进展,伴有严重的本体感觉缺陷、共济失调、肌肉萎缩以及尿/粪失禁。诊断五个月后,主人选择了安乐死。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d6d8/8955948/12b72c76aaa7/vetsci-09-00127-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d6d8/8955948/42a1d6f6c776/vetsci-09-00127-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d6d8/8955948/12b72c76aaa7/vetsci-09-00127-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d6d8/8955948/42a1d6f6c776/vetsci-09-00127-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d6d8/8955948/12b72c76aaa7/vetsci-09-00127-g002.jpg

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本文引用的文献

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Two mixed breed dogs with sensory neuropathy are homozygous for an inversion disrupting FAM134B previously identified in Border Collies.两只患有感觉神经病变的混种犬对于先前在边境牧羊犬中发现的一种破坏FAM134B基因的倒位是纯合子。
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Oclacitinib (APOQUEL(®)) is a novel Janus kinase inhibitor with activity against cytokines involved in allergy.奥克拉替尼(APOQUEL(®))是一种新型的 Janus 激酶抑制剂,对参与过敏反应的细胞因子具有活性。
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Canine inherited motor and sensory neuropathies: an updated classification in 22 breeds and comparison to Charcot-Marie-Tooth disease.犬遗传性运动感觉神经病:22 个品种的最新分类及与 Charcot-Marie-Tooth 病的比较。
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Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.编码一种新发现的高尔基体蛋白的FAM134B基因发生突变,会导致严重的感觉和自主神经病变。
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Sensory and motor neuropathy in a Border Collie.
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