History :
This 73 y/o gentleman had vague abdominal fullness sensation for one year.

Diagnosis :
Polycystic diseases, bilateral kidneys and liver cyst

Discussion :
Autosomal Dominant Polycystic Kidney Disease
 =ADULT POLYCYSTIC KIDNEY DISEASE
 =Potter Type III
 =slowly progressive disease with nearly 100% penetrance and great variation in expressivity

Cause:
-gene located on short arm of chromosome 16 (in 90%)
-spontaneous mutation in 10%

Incidence:
1:1,000 people carry the mutant gene; 3rd most prevalent cause of chronic renal failure

Associated with:

1. Cysts in: liver (25-50%), pancreas (9%); rare in lung, spleen, thyroid, ovaries, uterus, testis, seminal vesicles, epididymis, bladder
2. Aneurysm: saccular "berry" aneurysm of cerebral arteries (3-13%)
3. Mitral valve prolapse

-symptomatic at mean age of 35 years (cysts are growing with age)
-hypertension (50-70%)
-azotemia
-hematuria, proteinuria
-lumbar / abdominal pain
-bilaterally large kidneys with multifocal round lesions; unilateral enlargement may be the first manifestation of the disease
-cysts may calcify in curvilinear rim- / ringlike irregular amorphous fashion
-elongated + distorted + attenuated collecting system
-nodular puddling of contrast material on delayed images
-"Swiss cheese" nephrogram = multiple lesions of varying size with smooth margins
-polycystic kidneys shrink after beginning of renal failure, after renal transplantation, or on chronic hemodialysis

NUC:
-poor renal function on Tc-99m DTPA scan
-multiple areas of diminished activity, cortical activity only in areas of functioning cortex