spontaneous polycystic kidney and liver disease cynomolgus monkeys (Macaca fascicularis) and WT control Genome sequencing and assembly. Macaca fascicularis

This study diagnosed and reported two cases of PKD in non-human primate aged cynomolgus monkeys in China, one of which was also accompanied by PLD. Ultrasonic diagnosis and pathological dissection were used to analyze the pathological changes, WGS sequencing analyses were performed to find the pathogenic genes and specific mutations. We were trying to understand the underlying causative gene and the pathological changes of the disease, in order to further provide references for clinical study of the mechanism of PKD and PLD. Meanwhile, the report of this case also proved the possibility of modeling PKD and PLD in non-human primates, and contributed to the preclinical research of the disease mechanism and drugs.

本研究在中国食蟹猴（非人类灵长类动物）中确诊并报道了两例多囊肾病（Polycystic Kidney Disease, PKD）病例，其中一例同时并发多囊肝病（Polycystic Liver Disease, PLD）。本研究采用超声诊断与病理剖检技术分析其病理变化，并通过全基因组测序（Whole Genome Sequencing, WGS）筛选致病基因与特异性突变位点，旨在明确该疾病的潜在致病基因与病理机制，以期为多囊肾病与多囊肝病的发病机制临床研究提供参考依据。同时，本次病例报告证实了在非人类灵长类动物中构建多囊肾病与多囊肝病疾病模型的可行性，可为该疾病的发病机制研究与药物临床前研发提供助力。