The Kidney TRUST

Cystic Diseases, Genetic Diseases, and Birth Defects

Some diseases cause cysts to form in the kidneys. These fluid filled or solid cysts replace normal kidney function over time, and can be a rare cause of kidney failure. In the US, about 2% of kidney failure is caused by cystic diseases.1 The best known one is polycystic kidney disease, or PKD. PKD cysts can form in the kidneys, liver, pancreas, or testes.2 In medullary cystic kidney disease (MCKD), cysts form in the middle of each kidney. People with MCKD may pass large amounts of urine and need to take salt supplements. The kidneys become scarred and shrink.3 Other kidney diseases run in families, like:

  • Alport’s syndrome – which affects a type of collagen that makes up part of the kidneys.
  • Tuberous sclerosis – which causes benign tumors in the brain and organs.
  • Cystinosis – which causes crystals of the amino acid cystine to build up in the body.
  • Oxalosis – which causes oxalate crystal kidney stones to form.
  • Fabry disease – which causes deposits of a fatty substance in the blood and vessels.

And some kidney damage can be caused by birth defects, like DRASH syndrome; blockage in a ureter or kidney blood vessel; small, “horseshoe,” or extra kidneys; or prune belly syndrome.

What You Can Do

In most cases, while you can’t prevent or treat these problems, you can still help protect your kidneys if you:

  • Keep your blood pressure in control. Avoiding the “double-whammy” of high blood pressure and any other kidney problem can help protect your kidneys. Work with your doctor to find blood pressure drugs that will work for you. Ask about diet and exercise to help blood pressure.
  • Find a support group. You can get tips and stay on top of new research findings when you find others who have the same problem. Look in our Links section below for ideas.
  • Learn all you can about your condition. Knowledge is power, and new research is being done all the time.
  • Seek out a specialist. When you have a rare disease, you need to find a doctor who knows what you are up against and what the current research says. No doctor can stay up to date on every illness. Ask for a referral to an expert who can consult with your doctor, or find one by talking to others who have the disease.
  • Treat the symptoms. You may spill protein into your urine, lose too much water or salt, or have pain that raises your blood pressure. Getting treatment for these symptoms can help take some of the stress off of your kidneys.
  • Avoid known kidney toxins.
  • Check kidney function once a year. A test for protein in your urine and the level of creatinine in your blood can help you and your doctor see how well you’re doing.

Questions to Ask Your Doctor About a Cystic or Genetic Disease, or Birth Defect

  1. Should I take an ACE-inhibitor to keep my blood pressure down with PKD? (This class of blood pressure pills can help if you have a lot of protein in your urine)4
  2. How likely is it that my children will inherit this disease?
  3. What can I expect in the future from this condition, and how will I know?
  4. What treatments are available to help my symptoms?

Links to Learn More

  • PKD Foundation – request free information, learn about research, join a chapter, and more, at:
  • On-line PKD Support Groups – Join a PKD email listserv at: (about 70 emails/week).
  • Are you 15–64 years old with PKD? You may be able to take part in a clinical trial:
  • Read about medullary cystic kidney disease on Medline Plus, at
  • Join Alport syndrome message boards at:
  • Are you 15–70 years old with Alport syndrome? You may be able to take part in a clinical trial:
  • Find out more about tuberous sclerosis from the US government, at:
  • The Tuberous Sclerosis Alliance. Find information, local resources, on-line discussions, and more, at
  • On-line Tuberous Sclerosis Support Groups – Join a TSC email listserv at: (about 20 emails/week).
  • The Cystinosis Foundation. Find information, Q&As, message boards, and more, at
  • The Cystinosis Research Network – offers conferences, information, and more, at
  • Do you have a child with cystinosis? He or she may be able to take part in a clinical trial:
  • The Oxalosis and Hyperoxyluria Foundation – offers information, discussion boards and more, at
  • Read about oxalosis from the Mayo Clinic website:
  • Fabry Support and Information Group – Find research trials, discussion boards, links, and more, at
  • Learn about birth defects of all kinds from the March of Dimes:
  • Prune Belly Syndrome Network – Offers a patient registry, media watch, support forum, links, and more, at:

1 USRDS 2006 ADR, table A.7
4 Jafar TH, Stark PC, Schmid CH, Strandgaard S, Kamper AL, Maschio G, Becker G, Perrone RD, Levey AS; ACE Inhibition in Progressive Renal Disease (AIPRD) Study Group. The effect of angiotensin-converting-enzyme inhibitors on progression of advanced polycystic kidney disease. Kidney Int . 2005 Jan;67(1):265–71