Autosomal-Dominant (Adult) Polycystic Kidney Disease

Definition

Autosomal-dominant polycystic kidney disease is the most common genetically transmitted renal cystic disease.

Clinical Features

• Incidence

  The incidence is estimated between 1:500 and 1:1000.

• Age

  Most patients present in the third to fourth decade of life; however pediatric cases can occur.

• Sex

  Slight male predominance is reported (male-to-female ratio 3:2).

• Site

  The kidneys are mostly affected bilaterally.

• Treatment

  Renal dialysis is the standard of care followed by renal transplant, when necessary.

• Outcome

  Renal failure occurs in roughly 59% of patients.

The most frequent clinical findings are positive family history, flank mass, hematuria, hypertension, and azotemia. Hepatic fibrosis and biliary dysgenesis may be present. Renal cell adenoma and carcinoma can be seen among the cysts.

Macroscopy

The kidneys are enlarged but reniform with an outer surface displaying innumerable cysts ranging in size from a few millimeters to several centimeters (Fig. 1).

Autosomal-Dominant...