Several years ago, I dated a woman whose father, a big computer company executive, had polycystic kidney disease. He received dialysis treatments at home, and was okay for a while, then developed complications and died. I remember seeing him at home on that machine which took blood from his body, then routed it into its mechanical innards and back into him after cleansing it somehow. Having never worked in a clinical environment before, seeing him lying there hooked up to a machine upon which he depended for life made me feel queasy and uncomfortable. Perhaps the experience reminded me of the fragility of life in general and my own mortality in particular. This was my first exposure to polycystic kidney disease. It had an impact.
The woman, too, had the disease, which was genetically passed on to her from her father. A ballet instructor and choreographer, she's still very much alive today, but she has to be careful about her health and diet. And she knows her future is not necessarily very bright. She could die the same way her father did, if medical science can't produce a more palatable outcome for her.
600,000 Americans have the same disease she does, yet it's hardly a household term like AIDS. Polycystic kidney disease (PKD), sometimes called autosomal dominant polycystic kidney disease, is a life- threatening genetic disorder that eventually produces end- stage renal (kidney) disease in the majority of cases. Patients progressing to end- stage renal disease, must have either hemodialysis (a removal of the toxic substances in the blood by a machine that acts as an artificial kidney) or a kidney transplant to survive. According to the Polycystic Kidney Research Foundation, Kansas City, Missouri USA, an estimated 5 to 10 million people have the disease worldwide.
Polycystic kidney disease causes fluid- filled cysts to form in the kidneys, disrupting the ability of the kidneys to remove harmful toxins from the body. Some of these cysts can grow as large as oranges or grapefruit, enlarging the kidneys, and crowding out healthy kidney tissue. When the kidneys are compromised, they can't do their job - - namely, filtering the blood and eliminating waste products from the body in the form of urine. When this occurs, the waste builds up in the blood causing a condition known as "uremic poisoning." This is a very serious medical condition. Approximately 50% of all PKD patients will suffer from kidney failure and require either dialysis or a kidney transplant to live.
PKD causes much misery, uncertainty, anxiety, and human suffering. Children of adult PKD patients have a 50% chance of inheriting it. PKD causes approximately 1,000 deaths each year and annually produces about 2,000 additional cases of kidney failure. Yet because the course of the disease is variable, it's hard to predict what exactly will happen to PKD patients - - or when. Uremic poisoning usually occurs in the late stages of PKD and is not an initial presenting symptom of the disease.
PKD is also an economically painful disease. In fact, the cost of treatment, dialysis, and kidney transplantation related to PKD exceeds $1 billion each year, reports the Polycystic Kidney Research Foundation. A sizable portion of the economic burden falls on the Federal Government, since the majority of individuals with advanced PKD are on Medicare. Indeed, more than 200,000 individuals with end- stage renal failure receive coverage of essential life- saving care through our nation's Medicare program. (Source: U.S. Health Care Financing Administration)
Yet, according to the Polycystic Kidney Research Foundation, very little money is spent on PKD research relative to the amount of money spent on research for other diseases which affect fewer Americans than PKD.
The complications from the disease arise largely due to structural deformities of the kidneys, and hypertension (high blood pressure) is one of the most frequent complications, reports Patricia A. Gabow, M.D., writing a couple of years ago in The New England Journal of Medicine. This hypertension affects "as many as 60 percent of adults before the onset of renal insufficiency, and more than 80 percent of patients with end- stage renal failure," said Dr. Gabow.
In the same article, Dr. Gabow talks about pain being common in the disease. "About 60 percent of patients have back, flank, or abdominal pain that can be severe and disabling," she said.
Hematuria (blood in the urine) Frequent urination, headaches, or urinary tract infections, including infections of the kidney Kidney stones Fatigue, or a general feeling of tiredness cardiac valve abnormalities Protein in the urine Cysts also occurring in the liver, ovary, pancreas, spleen, and central nervous system. Inguinal and abdominal hernias Diverticuli of the colon Cerebral aneurysm (a ballooning of an artery in the brain, which can rupture and cause hemorrhage).
Signs of advancing uremia from compromised kidney function may include anorexia, nausea, vomiting, lassitude, itching, twitching, anemia, and bleeding tendency.
Despite the seriousness of PKD, most patients with the disease live normal lives and require no modification in their physical activity or lifestyle unless their health habits are unhealthy (e.g., smoking, excessive use of alcohol, taking drugs which can damage the kidneys) or they develop symptoms. (Go to anexclusive interview with Jared J. Grantham, M.D. for what can be done to combat progression of the disease.)
Learn as much as you can about PKD; empower yourself with knowledge. Find yourself a good kidney specialist (nephrologist or urologist). You can do this by contacting the department of nephrology or urology at a major university or medical center nearest your home. Your primary care physician can also help you get connected with such a doctor. Keep your blood pressure under control. Check with your doctor for the proper medications and lose weight if necessary. Watch your diet. Talk with your physician about counseling with a renal dietitian; eating the right foods can make you feel better. Avoid all forms of caffeine - - coffee, tea, colas, chocolate, and some forms of aspirin (Anacin, Excedrin). Read labels. Treat all urinary tract or bladder infections immediately. Contact your physician. Do not use any over- the- counter medication without first checking with your physician. Avoid drugs with ibuprofen (Advil, Medipren, Motrin, or Nuprin). Exercise. Staying fit by walking, swimming, or light aerobics keeps your body healthy, lean, and less prone to problems that can hasten the disease. For more information about polycystic kidney disease and other kidney diseases, contact:
Polycystic Kidney Research Foundation
4901 Main Street, Suite 320
Kansas City, Missouri 64112- 2674
(816) 931- 2600
800- PKD- CURE (753- 2873)
FAX: 816- 931- 8655
e- mail: 75713.2275@compuserve.comEditor's note: The Polycystic Kidney Foundation is the only organization worldwide solely devoted to supporting programs of research into the cause, cure and treatment of polycystic kidney disease. The organization, a not-for-profit public charity, accepts donations and contributions.
National Kidney Foundation
30 East 33rd Street, 11th Floor
New York, NY 10016
(212) 889- 2210
(800) 622- 9010National Kidney and Urologic Diseases Information Clearinghouse
NKUDIC
3 Information Way
Bethesda, MD 20892-3580 USA
(301) 654-4415
The author wishes to acknowledge the Polycystic Kidney Research Foundation for its assistance providing educational source materials for this article.National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
NIDDK's World Wide Web home page
The RENALNET Information Service; a truly excellent web site
a page on Inherited Renal Diseases.
A link to American Association of Kidney Patients (A patient advocacy, support, and education organization)