PKD Epidemiology – Journal Club

Large scale epidemiological study on feline autosomal dominant polycystic kidney disease

ADPKD

  • 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

Patient Stories

Our commitment to feline health is best seen in the stories of the cats we’ve had the privilege of treating. These journeys highlight the dedication, expertise and compassion that drive us.

Each patient faced unique challenges, and it was our honour to offer high-quality care and help them regain strength and happiness. We value the deep bonds with cats and their owners, knowing the difference we make in their lives.

Tango Triumphs Over FIP

At 5 months old, Tango was diagnosed with Feline Infectious Peritonitis (FIP). Once considered a fatal disease, the introduction of new treatments has significantly boosted the survival rate.

Toffee Survives Tick Paralysis

Toffee faced a frightening battle with tick paralysis and aspiration pneumonia, she was rushed to AES when her owners noticed her vomiting, breathing difficulties and trouble walking.

JJ & the Lily – a close call

Mischievous JJ had a close call when he ingested part of a lily—an extremely toxic plant for cats. Thanks to the quick actions of his owner, Sophie, a VSS vet nurse, JJ made a full recovery.

Han’s Hip Fracture Surgery

Han presented after limping on his hind leg for two weeks following an accident at home. An X-ray revealed a fractured growth plate in his hip, requiring surgery to repair the injury.

Coco and Kidney Troubles

Coco stayed with us at CSS while recovering from a nephrectomy (the surgical kidney removal). After months of unsuccessful treatment for a ureteral obstruction, this became necessary.

 

Contacting Us

Pet Owners
If you would like to talk about treatment for your cat, call us on 1300 228 377 or fill in the form.
In an emergency, please contact your local vet.

Vets and Nurses
To refer a patient or book a telehealth consultation please call us on 1300 228 377, book through the portal or fill in the form. For advice calls, please see the guidelines here.

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