Autosomal Dominant Polycystic Kidney: Clinical Features -1

Clinical Features - 1: Autosomal dominant polycystic kidney disease (ADPKD) has a highly variable penetrance which is reflected in a wide-ranging clinical presentation from severe disease causing fetal/neonatal demise to nearly normal renal function with minimal symptoms well into the old age. The phenotypic expression is influenced by both genetics and environmental factors. There is intrafamilial variability. In addition, the phenomenon of genetic anticipation has also been observed, where the disease is more severe and presents earlier in subsequent generations. This composite autopsy photograph from an ADPKD case shows external and cut surface of a kidney that is completely replaced by numerous cysts. (the discussion of clinical features continues in the next image).