Large scale epidemiological study on feline autosomal dominant polycystic kidney disease


  • Inherited 

  • Fluid filled cysts in kidney and occasionally liver and pancreas 

  • Deterioration in renal function due to compression of the renal parenchyma 

  • Heterozygous variant located in the PKD1 gene with a nonsense single nucleotide polymorphism in exon 29 (chrE3:g.42858112C>A, the conventional PKD1 variant). 

  • This variant causes a stop codon, truncating the protein up to 25% at the c-terminus 

  • Homozygous lethal in the embryonic stage 

  • PKD1 encodes polycystin 1 (PC1), which is a membrane-bound large multi-domain glycoprotein with a G protein couples receptor proteolytic site 

  • Physiological function is unclear; located on the primary cilia , a flagellar organelle protruding from the cell surface used for mechanotransduction 

  • PC1 I s thought to perform an important role in transmitting signals from outside the cell 

  • The loss of functional PC1 appears to contribute to the cystogenesis n ADPKD and much research has been conducted to identify the underlying mechanisms

  • Proposed the influence of various upregulated or down regulated intracellular signals while others have said that macrophage recruitment by the primary cilia plays a huge role in cytogenesis 

  •  2 models of the relationship between PC1 dsage and cystogenesis have been established 

  • 2 - hit model :After inactivation of one allele by germiline mutation , a somatic mutation occurs , inactiviating the other allele and thereby causing cystogenesis

  • Threshold theory : more recent suggests that the disease occurs when the PC1 levels drop below a certain threshold and do not necc, have to be at zero 

  • Since the variant responsible for the feline ADPKD truncates PC1 it can be assumed that the truncated abnormal protein is unable to function properly , leading to a lack of functional PC1 

  • Genetic tests to identify the PKD1 gene but cant predict the severity of disease or evaluate progression 

  • Persian and related breeds 

  • In Japan also seen in Scottish folds and American SHorthiar 

  • Prevenlence in few studies reported as 13.5% in China, 33% in Slovenia 40$ in Japan -> mostly focused on persian cats or cats suspected of CKD - small numbers of cats 

  • No data on cat population as a whole regarding prevalence of the disease or the PKD1 gene 

  • Some studies have revealed that cats without the conventional PKD1 variant can develop ADPKD - suggests that an unknown variant may severe as another cause of ADPKD 


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