Age/sex: 45-year-old male
Size: 22.4 x 18.0 x 8.0 cm
The specimen consists of a kidney cut in its mid-portion and separated into two halves with the pelvis (P) in the middle. Almost no normal renal cortex is evident, having been replaced by numerous variable sized cysts. Note the marked overall increase in size (compare with Specimen 25).
Hereditary polycystic kidney disease
This is a relatively common hereditary disease that is responsible for 5 - 10% of cases of chronic renal failure. The most frequent cause is a mutation of the PKD1 gene that normally codes for a protein responsible for intracellular calcium transport. The abnormal protein leads to cystic enlargement of renal tubules, at first microscopic but eventually up to several cm in diameter. In addition to being non-functional, the cysts compress adjacent normal kidney tissue causing it to atrophy; both processes eventually lead to kidney failure.
The autosomal dominant form of disease is often discovered at 30 to 40 years of age with findings of hypertension, an abdominal mass (the multi-cystic kidneys being several times the normal size), and laboratory evidence of renal dysfunction. Progressive disease leads to the need for dialysis or kidney transplantation.
The gross pathological findings were first described by Matthew Baillie in his textbook The Morbid Anatomy of Some of the Most Important Parts of the Human Body published in 1793. The name by which we know the disease today was first used in a student doctoral thesis (F茅lix Lejars) in 1888. A hereditary basis was recognized in 1899 and the PKD-1 genetic abnormality was discovered in 1994.
Below: An engraving showing 鈥渉ydatis of the kidney鈥�, published by Matthew Baillie in 1801.
Source: Heath, J. Hydatis of the kidney. Wellcome Collection.
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