Jaturanratsamee Kotchapol, Jiwaganont Palin, Sukumolanan Pratch, Petchdee Soontaree
Graduate School, Bio-Veterinary Science Program, Faculty of Veterinary Medicine, Kasetsart University, Bangkok, Bangkok, Thailand.
Graduate School, Veterinary Clinical Studies Program, Faculty of Veterinary Medicine, Kasetsart University, Bangkok, Bangkok, Thailand.
F1000Res. 2024 Feb 23;12:760. doi: 10.12688/f1000research.134906.2. eCollection 2023.
Polycystic kidney disease (PKD) has a complex phenotype partly explained by genetic variants related to this disease. Ultrasonography is a promising approach for defining clinical signs. This study aimed to assess kidney characteristics in cats with Polycystin-1 (PKD1) gene mutations and wild-type cats. Kidney characteristics were identified by ultrasonography.
A total of 108 cats of variable breeds aged an average of 37.01±3.50 months were included. Blood examination and biochemical tests were evaluated. For cystic formation, renal ultrasound was performed. The PKD1 gene mutation was identified polymerase chain reaction (PCR) and DNA sequencing. Matrix correlation and effectiveness of ultrasound for PKD1 mutation detection were determined.
The results showed that 19.44% of cats had PKD1 mutations, a high prevalence in Persian and Persian-related breed cats. Our results demonstrated the characteristics of kidneys in wild-type cats and cats with gene mutations. Based on ultrasonography results, there was an association between cats with gene mutations and cyst formation. The findings indicated that ultrasound did not detect cysts in cats aged 4-36 months, supporting the evidence that PKD1 gene mutations may not be present. This study found high sensitivity and renal specificity ultrasound for PKD1 heterozygous mutation. Moreover, cystic formation renal ultrasound showed an increased risk for PKD1 mutation 2,623 times compared to normal kidneys.
Ultrasonographic examination, coupled with genetic investigations, may help to clarify the phenotypic variability of PKD1. The phenotypic profile of PKD1 will guide therapeutic outcomes and reduce the prevalence of PKD morbidity and mortality in cats.
多囊肾病（PKD）具有复杂的表型，部分可由与该疾病相关的基因变异来解释。超声检查是确定临床体征的一种有前景的方法。本研究旨在评估携带多囊蛋白-1（PKD1）基因突变的猫和野生型猫的肾脏特征。通过超声检查来识别肾脏特征。
共纳入108只平均年龄为37.01±3.50个月的不同品种猫。评估血液检查和生化检测结果。为检测囊肿形成情况，进行肾脏超声检查。通过聚合酶链反应（PCR）和DNA测序来鉴定PKD1基因突变。确定超声检查对于PKD1突变检测的相关性和有效性。
结果显示，19.44%的猫存在PKD1突变，在波斯猫及与波斯猫相关的品种猫中患病率较高。我们的结果展示了野生型猫和基因突变猫的肾脏特征。基于超声检查结果，基因突变猫与囊肿形成之间存在关联。研究结果表明，超声检查未在4至36个月大的猫中检测到囊肿，这支持了可能不存在PKD1基因突变的证据。本研究发现超声检查对PKD1杂合突变具有较高的敏感性和肾脏特异性。此外，肾脏超声检查显示囊肿形成时，PKD1突变风险比正常肾脏增加2623倍。
超声检查结合基因研究，可能有助于阐明PKD1的表型变异性。PKD1的表型特征将指导治疗结果，并降低猫中PKD的发病率和死亡率。
