What can my son expect from PKD?

DEAR DR. GOTT: My son was recently diagnosed with polycystic kidney disease (PKD) at age 27. He was told he's had it all his life since it's hereditary. He is upset that his newborn son has a 50 percent chance of having it, too.

He has been going through a thorough work-up to determine a base line, but before he sees his nephrologist again, I thought he might benefit from having independent information to help him.

Currently he has enlarged kidneys with many cysts on both and a liver cyst. He has had a blood pressure problem since college and has been tired most of his life. A heart murmur was detected when he was young, so he takes antibiotics before dental work.

I've heard there are things you can do to help slow down the progression of this disease. I know it is incurable at present, but I understand that a cure may be possible within his lifetime. I have read that controlling blood pressure is at the top of the list, as well as consuming adequate water and restricting salt and protein in his diet.

The long-term problems are difficult for me to talk about, so I hope you will mention them as well has any other possible symptoms and treatments.

DEAR READER: Polycystic kidney disease causes the kidneys to develop clusters of cysts (fluid-filled sacs). The cysts are non-cancerous and can also affect other organs, such as the liver. It varies in severity.

The most common sign is high blood pressure. Other signs include kidney stones, kidney failure, headache, frequent urination, urinary tract or kidney infections, back or side pain, an increase in abdomen size and blood in the urine.

Polycystic kidney disease is most commonly caused by genetic defects passed from parent to child. Rarely, a spontaneous genetic mutation can occur, causing an individual without a family history to develop the disorder.

There are two types of PKD. The first, autosomal dominant polycystic kidney disease (ADPKD), accounts for approximately 90 percent of all cases. Only one parent needs to be affected to pass it down. Each child born to that individual has a 50 percent chance of inheriting the disease. Symptoms typically begin between ages 30 and 40, although children can also develop them.

The second form, autosomal recessive polycystic kidney disease (ARPKD), is much less common, accounting for the remaining 10 percent of cases. This form requires each parent to have the abnormal gene, passing them to their children.

There are several complications of PKD. High blood pressure, if left untreated, increases the risk of heart disease and stroke. Loss of kidney function and kidney failure can occur as the cysts enlarge, increasing pressure and causing scarring of normal kidney tissue. About half of all sufferers will have kidney failure by age 60. Female PKD sufferers carry a greater risk of developing pre-eclampsia (a disorder of pregnancy). The development of liver cysts increases with age. Brain aneurysm is more likely in PKD sufferers, especially in those under age 50. Approximately one-quarter develop mitral valve prolapse, a type of heart valve abnormality. Chronic back or side pain may occur. And, finally, diverticulosis is more common in those with PKD.

While the disease is incurable, many of the symptoms can be treated as they arise. Blood pressure can be controlled through diet, exercise and medication. Pain can be treated with over-the-counter and prescription pain relievers as needed. Urinary tract and kidney infections should be treated promptly with antibiotics. Kidney failure can be managed with dialysis and/or transplant.

Drinking plenty of fluids, consuming a low-salt, healthful diet, exercising regularly, quitting smoking, maintaining a healthy weight and taking medication(s) as prescribed or recommended by your doctor are important for staying as healthy as possible, for as long as possible.

First-degree family members (brothers, sisters, parents and children) should undergo testing to determine if they also have the disorder. PKD sufferers should speak with a genetic counselor before having children to determine the risk of passing on the genetic abnormalities that lead to the condition.

Your son may also benefit from joining a local support group. He can keep up-to-date with the latest treatment breakthroughs, learn more about his condition, and connect with other sufferers in his community by visiting the PKD foundation website, www.PKDCure.org. This organization has been around since 1982 and is working with researchers to find new drugs, treatments and a possible cure. It has also raised awareness and millions of dollars for PKD research.

Readers who are interested in learning more can order my Health Reports "Kidney Disorders" and "Hypertension" by sending a self-addressed, stamped No. 10 envelope and a $2 U.S. check or money order for each report to Dr. Peter Gott, P.O. Box 433, Lakeville, CT 06039. Be sure to mention the title(s), or print an order form from my website's direct link: www.AskDrGottMD.com/order_form.pdf.

Dr. Peter H. Gott is a retired physician and the author of several books, including "Live Longer, Live Better," "Dr. Gott's No Flour, No Sugar Diet" and "Dr. Gott's No Flour, No Sugar Cookbook," which are available at most bookstores or online. His website is www.AskDrGottMD.com.