Polycystic Kidney Disease (PKD)

Autosomal Dominant Polycystic Kidney Disease (ADPKD) and Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Signs and symptoms:

  • Kidney: cysts on both kidneys are present in ADPKD and ARPKD. In ADPKD, symptoms include: stones (in ~20% of individuals with ADPKD), urinary tract infection, renal pain and renal failure. Renal failure may also be seen in ARPKD. End stage renal disease occurs in the first decade of life for more than half of individuals with ARPKD. There is no increased risk for RCC, but renal tumours in ADPKD-affected individuals are more often bilateral, multifocal, sarcomatoid and metastatic than in the general population.
  • High blood pressure due to reduced renal blood flow because of renal cysts.
  • Liver: polycystic liver disease. Liver complications are more prevalent in ARPKD and include: congenital hepatic fibrosis, ascending cholangitis, progressive liver dysfunction, portal hypertension with varices, hypersplenism, and rarely overt liver failure with cirrhosis. Liver cancer has also been reported in ARPKD-affected adults.
  • Pancreas: cysts and possibly tumours in ADPKD.
  • Seminal vesicles: cysts (40% of ADPKD-affected males), which cause male infertility.
  • Vascular abnormalities including arterial aneurysms (ADPKD)
  • Hernias (ADPKD)
  • Cysts on arachnoid membrane in ADPKD
  • Lung: pulmonary hypoplasia in ARPKD.

Diagnosis

  • An accurate diagnosis is available by genetic testing, as the genes associated with ADPKD (PKD1 and PKD2) and ARPKD (PKHD1) have been identified.

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Publication date: September 2012
Review date: September 2015