Autosomal Dominant Polycystic Kidney Disease (ADPKD) and Autosomal Recessive Polycystic Kidney Disease (ARPKD)
Signs and symptoms:
- Kidney: cysts, stones (20% of individuals with ADPKD), renal failure and urinary tract infection. 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: ascending cholangitis, progressive liver dysfunction, portal hypertension with varices, hypersplenism, and overt liver failure with cirrhosis.
- Pancreas: cysts and possibly tumours.
- Seminal vesicle cysts (40% of ADPKD-affected males), which cause male infertility.
- Arterial aneurysms
- Lung: pulmonary hypoplasia in ARPKD.
Diagnosis
- An accurate diagnosis is available by genetic testing, as the genes associated with ADPKD and ARPKD have been identified.
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