Polycystic kidney disease (PKD) is one of the most common hereditary diseases in cats, with high prevalence in Persian and Persian-related cats. PKD is caused mainly by an inherited autosomal dominant (AD) mutation, and animals may be asymptomatic for years. We screened 16 cats from various breeds exhibiting a renal abnormality by ultrasound examination and genotyped them for the c.10063C>A transversion on exon 29 of the polycystin-1 (PKD1) gene, by PCR–restriction fragment length polymorphism (PCR-RFLP). Among these cats, a Siamese nuclear family of 4 cats with ancestral hereditary renal failure were screened by whole-genome sequencing (WGS) to determine novel variations in genes associated with both AD and autosomal recessive PKD in humans. During the study period, one cat died as a result of renal failure and was forwarded for autopsy. Additionally, we screened 294 cats asymptomatic for renal disease (Angora, Van, Persian, Siamese, Scottish Fold, Exotic Shorthair, British Shorthair, and mixed breeds) to determine the prevalence of the mutation in cats in Turkey. Ten of the symptomatic and 2 of the asymptomatic cats carried the heterozygous C → A transversion, indicating a prevalence of 62.5% and 0.68%, respectively. In the WGS analysis of 4 cats in the Siamese nuclear family, novel variations were determined in the fibrocystin gene (PKHD1), which was not compatible with dominant inheritance of PKD.

多囊肾疾病（PKD）是猫中最常见的遗传性疾病之一，在波斯和与波斯有关的猫中患病率很高。PKD主要由遗传的常染色体显性遗传（AD）突变引起，动物可能多年没有症状。我们通过超声检查筛选了16只来自不同品种的表现出肾脏异常的猫，并对它们进行基因分型，以检测多囊藻蛋白1（PKD1）外显子29的c.10063C> A转化）基因，通过PCR限制性片段长度多态性（PCR-RFLP）。在这些猫中，通过全基因组测序（WGS）筛选了四只祖先遗传性肾衰竭的暹罗核心家族，以确定与AD和常染色体隐性PKD相关的基因的新变异。在研究期间，一只猫死于肾衰竭，并被送去做尸检。此外，我们筛选了294例无症状肾脏疾病的猫（安哥拉猫，范猫，波斯猫，暹罗猫，苏格兰折耳猫，异国短毛猫，英国短毛猫和混合犬），以确定该突变在土耳其猫中的普遍性。10例有症状猫和2例无症状猫携带C→A杂合，表明患病率分别为62.5％和0.68％。在对暹罗核心家庭中的四只猫进行WGS分析时，PKHD1），与PKD的显性遗传不兼容。