Donor: Royal Victoria Hospital
Size (H x W x D cm): 20 x 15 x 7
Both kidneys are markedly enlarged (combined weight 415 g; normal 40 g) and contain innumerable 1 - 5 mm cysts. Typically, cysts tend to be elongated in the cortex and rounded in the medulla (as seen in the magnified view, A); they are believed to be located primarily in the collecting ducts.
A. Magnified view.
History: Ten week-old boy born 3 weeks before term. Although development was said to be normal, he died one month after surgery for pyloric stenosis, presumably following the development of gastrointestinal symptoms.
Comment: The disease occurs in about 1 in 10, 000 - 20,000 live births and is associated with an autosomal recessive gene mutation on chromosome 6. The pathogenesis is not well understood, but is believed to be related to abnormal intracellular calcium regulation by cyclic adenosine monophosphate, leading to a proliferation of tubular epithelial cells followed by cyst formation. Most cases are discovered in infancy; however, presentation can be delayed until adolescence.