Page created on February 20, 2019. Last updated on February 23, 2019 at 15:25
Organ: Liver and kidney
The liver contains only small cysts, shown here as holes.
The kidney is very large and contains many large cysts to such a degree that very little kidney parenchyme is actually left. Some cysts are even 3-5 cm in diameter.
Diagnosis: Autosomal dominant polycystic kidney disease
- Autosomal dominant mutation of the PKD1 gene
In autosomal dominant polycystic kidney disease will the progressive loss of kidney parenchyme lead to chronic renal failure in the patient’s 40s. This preparation is taken from a patient around this age, as this person’s kidney parenchyme is already largely replaced by cysts.
This form of polycystic kidney disease causes no functional abnormality of the liver. The small liver cysts are not large enough to cause liver failure.