Autosomal Dominant Polycystic Kidney Disease

QUESTION: My brother has been told he has a disease that causes cysts to form
in the kidney. The doctor also told him it was inherited and therefore I
might have it as well. Have you ever heard of this kind of illness, and would
you share some of your knowledge with me? Thank you very much.
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ANSWER: I believe your brother has been diagnosed with a disease of the
kidney known as "Autosomal dominant polycystic kidney disease" (ADPKD), (also
known as adult polycystic renal disease). ADPKD is a relatively common
familial disorder, affecting approximately one in 500 Americans, and the
possibility that you too may have the same condition without realizing it does
exist, especially if you are younger than he is. Patients with the dominant
gene have an almost 100 percent chance of developing the disease by age 80.
In individuals with ADPKD, the kidneys are abnormal from birth. Small
cysts are present in the newborn and gradually grow larger with age. As the
cysts enlarge, they press on the neighboring kidney tissues, reducing the
blood flow to these cells. The combination of increased pressure and
diminished circulation causes these cells to atrophy and die. This reduces
the ability of the kidneys to perform their functions. But this is a slow
process, often proceeding without causing any obvious symptoms, and in some
cases can go undiagnosed throughout the patient's entire life.
Most patients show no symptoms until their mid-twenties or early middle
adulthood. Because screening of asymptomatic individuals in families with
known ADPKD is recommended, you might wish to consult with your own doctor.
Ultrasound examinations, followed by additional studies in positive cases,
frequently provides a diagnosis before the onset of symptoms. Some of the
symptoms that may be provoked by ADPKD are; blood in the urine, renal colic
due to obstructing clots, pyelonephritis, hypertension, and in advanced
stages, palpable abdominal masses, chronic renal failure with the nephrotic
syndrome, weight loss, or subarachnoid hemorrhage from associated intracranial
aneurysms. Since chronic renal failure often occurs within ten years of the
onset of symptoms, you would be well advised to start your own investigations
now.