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一只家养短毛猫患岩藻糖苷贮积症。

Fucosidosis in a domestic shorthair cat.

作者信息

Arrol Lorna P, Kerrins Annette M, Yamakawa Yoshika, Smith Peter M

机构信息

Department of Clinical Veterinary Sciences, University of Liverpool, Leahurst, Neston, Wirral, UK.

出版信息

J Feline Med Surg. 2011 Feb;13(2):120-4. doi: 10.1016/j.jfms.2010.09.001. Epub 2010 Nov 5.

Abstract

This paper documents the first reported case of fucosidosis in a cat. The cat presented with signs of forebrain and cerebellar dysfunction and a magnetic resonance imaging scan of the brain suggested a degenerative or metabolic disease process. A fine needle aspirate of grossly normal lymph nodes revealed vacuolated lymphocytes and a renal biopsy of an irregular shaped kidney identified vacuolated tubular epithelial cells. A white cell lysosomal enzyme screen revealed negligible α-fucosidase activity. Fucosidosis should be considered in the differential diagnosis of young cats with cerebellar dysfunction and must be added to the list of lysosomal storage diseases affecting the cat.

摘要

本文记录了首例猫岩藻糖苷贮积症的报告病例。这只猫出现了前脑和小脑功能障碍的症状,脑部磁共振成像扫描显示有退行性或代谢性疾病过程。对外观正常的淋巴结进行细针穿刺抽吸,发现有空泡化淋巴细胞,对形状不规则的肾脏进行肾活检,发现有空泡化肾小管上皮细胞。白细胞溶酶体酶筛查显示α-岩藻糖苷酶活性可忽略不计。在对患有小脑功能障碍的幼猫进行鉴别诊断时应考虑岩藻糖苷贮积症,且必须将其列入影响猫的溶酶体贮积病名单中。

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本文引用的文献

3
[Neurological presentations of lysosomal diseases in adult patients].[成年患者溶酶体疾病的神经学表现]
Rev Neurol (Paris). 2007 Oct;163(10):919-29. doi: 10.1016/s0035-3787(07)92635-1.
4
Fucosidosis: MRI and MRS findings.岩藻糖苷贮积症:MRI和MRS表现
Pediatr Radiol. 2007 Oct;37(10):1050-2. doi: 10.1007/s00247-007-0572-4. Epub 2007 Aug 18.
9
Fabry disease: a review.法布里病:综述
Joint Bone Spine. 2004 Sep;71(5):381-3. doi: 10.1016/j.jbspin.2003.10.015.
10
Recognition and diagnosis of lysosomal storage diseases in the cat and dog.猫和狗溶酶体贮积病的识别与诊断
J Vet Intern Med. 2002 Mar-Apr;16(2):133-41. doi: 10.1892/0891-6640(2002)016<0133:radols>2.3.co;2.

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