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Kidney: autosomal dominant polycystic disease

ffelis
Contributor(s):

Martha Cannon

Rachel Korman

Synonym(s): Polycystic kidney disease, autosomal dominant polycystic kidney disease, PKD, AD-PKD


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.

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.

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