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基于年龄的超声诊断标准在波斯猫常染色体显性遗传性多囊肾病中的应用

Age-based ultrasonographic criteria for diagnosis of autosomal dominant polycystic kidney disease in Persian cats.

作者信息

Guerra Juliana M, Freitas Mariana F, Daniel Alexandre Gt, Pellegrino Arine, Cardoso Natália C, de Castro Isac, Onuchic Luiz F, Cogliati Bruno

机构信息

1 Department of Pathology, School of Veterinary Medicine and Animal Science, University of São Paulo, São Paulo, Brazil.

2 Nucleus of Quantitative Pathology, Pathology Center, Adolfo Lutz Institute, São Paulo, Brazil.

出版信息

J Feline Med Surg. 2019 Feb;21(2):156-164. doi: 10.1177/1098612X18764591. Epub 2018 Apr 13.

Abstract

OBJECTIVES

The aim of this study was to establish ultrasound criteria for the diagnosis of autosomal dominant polycystic kidney disease (ADPKD) in Persian cats.

METHODS

Eighty-two Persian cats were assessed using renal ultrasound and genotyped for the C→A transversion in exon 29 of PKD1. The animals were also submitted to hematological characterization, serum biochemistry analyses and urinalysis.

RESULTS

Age, sex and neutering status did not differ between ADPKD (n = 12) and non-ADPKD (n = 70) cats. After integrated molecular genetics/ultrasonographic analysis, the presence of at least one renal cyst was sufficient to establish a diagnosis of ADPKD in animals up to 15 months of age. Two or more cysts were required for diagnosis in cats aged 16-32 months, and at least three cysts warranted diagnosis of ADPKD in animals aged 33-49 months. Finally, four or more cysts led to diagnosis in cats aged 50-66 months. Although cats with ADPKD exhibited higher serum calcium levels than non-affected cats, hematological, urinalysis and other biochemical parameters did not differ between the two groups.

CONCLUSIONS AND RELEVANCE

Integrated analyses of imaging and molecular genetics data enabled, for the first time, the establishment of age-based ultrasonographic criteria for the diagnosis of ADPKD in Persian cats. The development of imaging criteria is particularly relevant and useful in the clinical setting given the current limitations to access and the cost of molecular genetics-based diagnostic tests.

摘要

目的

本研究的目的是建立波斯猫常染色体显性遗传性多囊肾病(ADPKD)的超声诊断标准。

方法

对82只波斯猫进行肾脏超声检查,并对PKD1基因第29外显子的C→A颠换进行基因分型。这些动物还接受了血液学特征分析、血清生化分析和尿液分析。

结果

ADPKD猫(n = 12)和非ADPKD猫(n = 70)在年龄、性别和绝育状态方面没有差异。经过综合分子遗传学/超声分析,对于15个月龄及以下的动物,至少存在一个肾囊肿就足以诊断为ADPKD。16 - 32个月龄的猫诊断需要两个或更多囊肿,33 - 49个月龄的动物至少三个囊肿才能确诊为ADPKD。最后,50 - 66个月龄的猫有四个或更多囊肿可确诊。虽然ADPKD猫的血清钙水平高于未受影响的猫,但两组之间的血液学、尿液分析和其他生化参数没有差异。

结论及意义

影像学和分子遗传学数据的综合分析首次使得能够建立基于年龄的波斯猫ADPKD超声诊断标准。鉴于目前获取分子遗传学诊断测试的局限性和成本,影像学标准的制定在临床环境中尤为相关且有用。

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本文引用的文献

1
Congenital hepatic fibrosis and polycystic kidney disease not linked to C >A mutation in exon 29 of in a Persian cat.
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Polycystic kidney disease: a review and occurrence in Slovenia with comparison between ultrasound and genetic testing.
J Feline Med Surg. 2008 Apr;10(2):115-9. doi: 10.1016/j.jfms.2007.07.004. Epub 2007 Nov 7.

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