Polycystic kidney disease

Alternative names:

autosomal dominant polycystic kidney disease; cysts - kidneys; kidney - polycystic; PCKD

Symptoms:

• blood in the urine
• flank pain on one or both sides
• excessive urination at night
• abdominal pain or tenderness
  • any part of abdomen
  • right upper quadrant
  • left upper quadrant

Additional symptoms that may be associated with this disease:

• nail abnormalities
• painful menstruation
• joint pain
• drowsiness
• high blood pressure

Signs and tests:

Examination may show high blood pressure, kidneys or abdominal masses (aggregations of cells) which are felt by touch during examination, abdominal tenderness over the liver (right upper quadrant), and enlarged liver. There may be heart murmurs or other signs of aortic insufficiency or mitral insufficiency.

• A urinalysis is nonspecific, but it may show urine protein or blood in the urine.
• A CBC may show decreased or increased RBCs and hematocrit.
• Cerebral angiography may show associated aneurysms.

Polycystic kidney disease, and associated cysts on the liver or other organs, may show on:

• abdominal ultrasound
• abdominal CT scan
• abdominal MRI scan
• IVP

In a family with several affected members, genetic linkage tests can be performed to determine with fair reliability whether a person at risk carries the gene for PCKD.