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Kidney: autosomal dominant polycystic disease

ISSN 2398-2950

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Introduction

  • An inherited disorder characterized by the presence of multiple fluid filled cysts within the renal cortex and medulla, and occasionally also within the hepatic parenchyma.
  • Autosomal dominant polycystic kidney disease (AD-PKD) is the most common inherited renal disease of cats and is a common condition in Persian and Exotic Shorthaired cats. In most cats it occurs due to an autosomal dominant mutation of the PKD1 gene.
  • Affected cats can be identified by a gene test (cats of any age) or ultrasound scanning of the kidneys (cats over 10 months of age).
  • The International Cat Care AD-PKD Negative Register International Cat Care AD-PKD negative register allows breeders and owners to find cats that have been gene tested and are negative, encouraging the development of controlled breeding plans aimed at eliminating the condition.
  • Cause: autosomal dominant inherited disorder causing multiple, congenital renal cysts which enlarge with age; acquired renal cysts occur rarely, usually in small numbers.
  • Signs: initially asymptomatic, progressing at an unpredictable rate to chronic renal failure.
  • Diagnosis: gene test, ultrasonography. 
  • Treatment: no specific treatment available.
  • Prognosis: poor.
Print off the owner factsheet Autosomal dominant polycystic kidney disease Autosomal dominant polycystic kidney disease to give to your client.

Presenting signs

  • Asymptomatic in early stages.
  • Advancing to chronic renal failure Kidney: chronic kidney disease with lethargy, anorexia, polyuria, polydipsia, constipation, weight loss, muscle wastage and possibly vomiting.
  • Cysts may result in hematuria and risk of urinary tract infections.
  • Enlarged, irregular kidney(s) on abdominal palpation. Cysts are often bilateral.

Geographic incidence

  • Worldwide.

Age predisposition

  • Cysts are congenital.
  • Cysts enlarge with age at an unpredictable rate, eventually causing kidney disease. Kidney disease may develop as young as 2 or 3 years of age, or may not occur until into old age. The mean age when cats develop signs of chronic kidney disease is 7 years.

Breed/Species predisposition

  • Very common in Persians Persian longhair and Exotic Shorthairs Exotic Shorthair; affects approximately one third of cats of these breeds in the UK, and around the world.
  • Other breeds which have used Persian crosses in the past may also have imported the gene, eg Burmilla, British Shorthair British shorthair, Asian Asian, Bombay Bombay, Cornish Rex Cornish Rex, Devon Rex Devon Rex, Ragdoll Ragdoll, Snowshoe Snowshoe, Tiffanie. In other breeds, prevalence may reach 16%.
  • Cystic renal disease occurs with a low prevalence in the Maine Coon Maine Coon and is unrelated to the PKD1 mutation seen in Persians and related breeds.

Pathogenesis

Etiology

  • Inherited:
    • Polycystin-1 is a renal tubule membrane glycoprotein required for epithelial cell proliferation and differentiation. It is encoded by the PKD1 gene. Insufficient polycystin-1 production causes remodelling of renal tubules and cyst formation.
    • AD-PKD is an autosomal dominant condition inherited on a single gene meaning that:
      • All cats with the abnormal gene have AD-PKD (healthy carriers do not exist).
      • Only one parent of an affected cat needs to be affected.
      • Every cat with AD-PKD will pass the disease to a proportion of its kittens (even if the other parent is unaffected).
  • Acquired:
    • Renal cysts may be due to microbes, drugs, toxins, etc. These diseases occur rarely in cats.

Pathophysiology

  • Autosomal dominant polycystic kidney disease is an inherited condition causing the development of multiple cysts in renal tissue.
  • Cysts are present from birth. Cats are initially asymptomatic, however the cysts gradually enlarge displacing normal renal parenchyma. Subsequently, substantial tubulointerstitial inflammation and/or fibrosis occurs in surrounding tissue resulting in chronic kidney disease and kidney failure.

Timecourse

  • Rate of progression from asymptomatic disease to kidney failure Kidney: chronic kidney disease is highly variable, and unpredictable.
  • Severely affected individuals may succumb at an early age, eg 2-3 years old, other cats maintain adequate renal failure into old age.
  • The "average" age quoted for development of renal failure is 7 years of age, but there is enormous variability between individuals.

Diagnosis

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Treatment

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Prevention

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Outcomes

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Further Reading

Publications

Refereed papers

  • Recent references from PubMed and VetMedResource.
  • Bonazzi M, Volta A, Gnudi G et al (2009) Comparison between ultrasound and genetic testing for the early diagnosis of polycystic kidney disease in Persian and Exotic Shorthair cats. J Fel Med Surg 11 (6), 430-434 PubMed.
  • Helps C, Tasker S, Harley R (2007) Correlation of the feline PKD1 genetic mutation with cases of PKD diagnosed by pathological examination. Exp Mol Path 83 (2), 264-268 PubMed.
  • Zatelli A, D’Ippolito P, Bonfanti U et al (2007) Ultrasound-assisted drainage and alcoholization of hepatic and renal cysts: 22 cases. JAAHA 43 (2), 112-6 PubMed.
  • Grahn R A, Biller D S, Young A E et al (2004) Genetic testing for feline polycystic kidney disease. Anim Genet 35 (6), 503-504 PubMed.
  • Lyons L A, Biller D S, Erdman C A et al (2004) Feline polycystic kidney disease mutation identified in PKD1. J Am Soc Nephrol 15 (10), 2548-2555 PubMed.
  • Barthez P Y, Rivier P & Begon D (2003) Prevalence of polycystic kidney disease in Persian and Persian related cats in France. J Fel Med Surg (6), 345-347 PubMed.
  • Reichle J K, DiBartola S P & Léveillé R (2002) Renal ultrasonographic and computed tomographic appearance, volume, and function of cats with autosomal dominant polycystic kidney disease. Vet Radiol Ultrasound 43 (4), 368-373 PubMed.
  • Barrs V R, Gunew M, Foster S F et al (2001) Feline polycystic kidney disease in Persian cats and related breeds in Sydney and Brisbane. Aust Vet J 79 (4), 257-259 PubMed.
  • Beck C & Lavelle R B (2001) Feline polycystic kidney disease in Persian and other cats a prospective study using ultrasonography. Aust Vet J 79 (3), 181-184 PubMed.
  • Cannon M J (2001) Polycystic Kidney Disease in Persian Cats. UK Vet (1), 64-66.
  • Cannon M J, Mackay A D, Barr F J et al (2001) Prevalence of polycystic kidney disease in Persian cats in the UK. Vet Rec 149 (14), 409-411 PubMed.
  • Malik R (2001) Genetic diseases of cats. JFMS (2), 109-113 PubMed.
  • Biller D S, Chew D J, DiBartola S P (1990) Polycystic kidney disease in a family of Persian cats. JAVMA 196 (8), 1288-1290 PubMed.

Other sources of information

  • Biller D S (1994) Polycystic kidney disease.In:Consultations in Feline Medicine 2.Ed. J R August. W B Saunders. pp 325-330.