Cystic Disorders

ADPKD

the most common hereditary human kidney disease; autosomal dominant

Of the two genes assoicated with ADPKD, PKD-2 is believed to have a later age of onset of symptoms and renal failure (better prognosis)

common in 4th- 5th decades; present with bilateral macrocysts

also causes cysts in other organs (liver, pancreas, spleen, gonads), cerebral (berry) aneurysms in about 10-15% (the rupture of which may cause death), aortic aneurysm, and abnormalities of cardiac valves (most often MVP and AR); increased risk of abdominal wall and inguinal hernia, colonic diverticula

The most common extrarenal manifestation of ADPKD is hepatic cysts.

Presenting signs of PKD include -

1. hypertension (secondary to renin production),
2. renal failure (with elevated BUN and creatinine), and
3. anemia (secondary to a failure of renal erythropoietin production)

One of the most common extrarenal manifestations is colonic diverticular disease with an increase risk of perforation.

Increased risk of UTI and pyelonephritis

~50% chance of developing ESRD by age 70

Tx -

Most important -> aggressive BP control, preferably with ACE-i

If the patient went into renal failure and considering peritoneal dialysis, it is important to do total colonoscopy to rule out diverticulosis, which can potentially complicate peritoneal dialysis

Abdominal/renal ultrasound is the procedure of choice for screening the asymptomatic family members of a patient with ADPKD. Recommend for any family member of age 18 or more; Counseling should be done prior to screening as positive testing can have psychological, insurability, and employment ramifications.

Renal ultrasound is not typically used for monitoring progression of ADPKD as sensitivity is too low to determine rate of cyst growth.