Autosomal Dominant Polycystic Kidney: Clinical Features - 2
Section Editor: Dharam M. Ramnani, MD
Virginia Urology, Richmond, VA, USA
Image Description
Clinical Features - 2 (continued from the previous image): Autosomal dominant polycystic kidney disease (ADPKD) is asymptomatic initially. Symptoms appear later in life when renal parenchyma has been partially or totally destroyed and renal insufficiency ensues. PKD1 mutations produce a more aggressive form of the disease in which almost 65% of patients have renal cysts by the age of 10 years and 90% by the age of 20 years. The symptoms can occur at any age, but most patients present between 3rd and 5th decades of life. End-stage renal disease (ESRD) occurs by the end of 5th decade. An early-onset variant of ADPKD presents in children.
In patients with PKD2 mutations, the disease is milder, presents later in life and progresses more slowly, resulting in ESRD around the 7th decade of life. This autopsy photograph shows both kidneys in early stages of involvement with ADPKD. The kidney-shape is retained and the cysts are less numerous and small in size. Compare the external surface to several other cases shown here. (the discussion of clinical features continues in the next image).
In patients with PKD2 mutations, the disease is milder, presents later in life and progresses more slowly, resulting in ESRD around the 7th decade of life. This autopsy photograph shows both kidneys in early stages of involvement with ADPKD. The kidney-shape is retained and the cysts are less numerous and small in size. Compare the external surface to several other cases shown here. (the discussion of clinical features continues in the next image).