Page created on February 20, 2019. Last updated on December 18, 2024 at 16:56
Organ: Liver and kidney
Description:
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
Causes:
- Autosomal dominant mutation of the PKD1 gene
Theory:
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.