The most common of
ALL life-threatening, genetic diseases in the United States
Affects >12
million people worldwide
It is the third leading cause of end state renal
disease(ESRD) in the United States. ( Number one being Diabetes
Mellitus. Number
two is hypertension.)
Symptoms/ Signs
Abdominal pain(60)
Flank masses (20%)
Urinary tract infection (30 to 50)
Hypertension (50 to 70)
Nephrolithiasis (30%)
Hepatic cysts (10 % <30 years old; 40% > 60 years old)
Intracranial
aneurysms (recommend screening only if there is a strong
family history), predominantly distributed in
the middle cerebral artery.
Diagnosis
75% of the
time with positive family history
Requires the presence of at least 3 cysts
bilaterally in the ultrasound but a negative ultrasound cannot exclude ADPKD until
the patient is > 30 years old.
Treatment
Hypertension: angiotensin
converting enzyme inhibitor or Beta-blocker
