Rare kidney diseases: Understanding, support and solutions

Learn about rare diseases that affect the kidneys, how they are diagnosed, and how to manage your health with a rare disease. You'll also gain insights into managing your overall wellbeing with a rare disease including building support networks and being your own best advocate.

What are rare diseases?

Rare diseases are health conditions that affect a small number of people, defined in the United States as those impacting fewer than 200,000 individuals at any time. These diseases are unique because they're uncommon, come from various causes, and can show up in many ways in different people. This rarity makes diagnosing, treating, and studying these diseases quite challenging.

Rare disease can be caused by genetic mutations (or changes), environmental factors, or both, and they can affect any body part, including the kidneys, heart, lungs, brain, or immune system. 

How do rare diseases affect kidney health? 

Rare kidney diseases include a range of conditions that can affect your kidneys. These conditions can be caused by genetic mutations (changes), autoimmune disorders, or environmental factors.

Genetic diseases can be caused by a mutation (change) in one or more of your genes. They can also be caused by a combination of a gene mutation and environmental factor or by damage to your genes. In some cases, genetic causes of kidney disease can be passed down from parents to children. Some examples of rare genetic kidney diseases include:

Autoimmune diseases happen when your immune system, which is your body's cells and tissues that fight infection, attacks healthy cells. Rare kidney diseases that are related to the immune system include:

  • IgA nephropathy (IgAN): A kidney condition where antibodies called IgA build up in the kidneys, causing inflammation.
  • Lupus nephritis: A condition where the immune system mistakenly attacks the kidneys leading to inflammation and damage. 

There are also environmental factors such as infections and exposure to toxins that can lead to rare forms of kidney disease. See our full list of kidney diseases to learn more about other rare diseases that affect the kidneys. 

How are rare kidney diseases diagnosed?

Symptoms of rare kidney disease can vary depending on the cause of the disease. In some cases, there may not be a clear connection between a rare disease and your kidneys or symptoms may affect other organs or systems in your body. Some common symptoms of kidney disease include:

  • Fatigue
  • Swelling in your legs or feet
  • Changes in urine output
  • High blood pressure

Since these symptoms can be common to other health conditions, it can sometimes take longer to connect them to your kidney health. Diagnosing a rare kidney disease will involve a full evaluation by healthcare providers who specialize in kidney disease (nephrologist) and rare diseases. Since rare kidney diseases can affect other organs than your kidneys you may need to see multiple types of doctors who specialize in different areas of the body. Talk with your doctor about tests to find the cause of your kidney disease. Getting a diagnosis for rare kidney disease can be challenging, but you are your best advocate. Check out our tips for working with your doctor to find the cause of your kidney disease.

How can I manage my kidney health with a rare disease?

Management of rare diseases varies depending on the specific condition and its impact on the body. It involves understanding your condition and working closely with your healthcare team. Here are some strategies that can help you manage:

  1. Get regular tests: Regular check-ups with your doctor are important. Blood and urine tests can monitor how well your kidneys are working and catch any signs of damage early. This can help to prevent further damage to your kidneys or slow progression of your disease.
  2. Follow a kidney-friendly eating plan: Depending on your condition, you may need to make changes to what you eat and drink. Work with a dietitian to create a personalized plan.
  3. Talk to your doctor about medicine options: Treatment for a rare disease can help to manage symptoms such as control your blood pressure or reduce inflammation. Some rare diseases may have specific medicines available that can help slow down damage to your kidneys. Talk with your doctor about the medicines that could work for you.
  4. Clinical trials: Clinical trials are research studies studying the effectiveness of new treatments not yet approved by the Food and Drug Administration (FDA).  If you join a clinical trial, you may be able to try new medicines or therapies that could help your condition before they are available to all people. Learn more about clinical trials for kidney disease and if you may be eligible to participate in one. 

How can I manage life with a rare disease?

Living with a rare disease has unique challenges. It's not just about managing a health condition but navigating a journey that can feel isolating and overwhelming at times. Here are strategies to cope and thrive: 

  1. Understand your condition: Knowledge is power. Learning as much as you can about your rare disease can help you understand your symptoms, treatment options, and what to expect. It empowers you to make informed decisions about your care. Rare diseases may not have much information available as researchers learn more about them and new ways to diagnose and treat them become available. Learn how to do your own research to learn more about your disease. 
  2. Build a support network: Support groups, online communities, and patient advocacy organizations can provide emotional support, practical advice, and a sense of belonging.
  3. Advocate for your health: You are the most important advocate for your health. This means asking questions, seeking second opinions when necessary, and pushing for the care and treatments you need. It also involves educating others about your condition to foster understanding and support. 
  4. Manage your treatment and care: Staying on top of your treatment plan, including medicines, appointments, and therapies, is important. Organizational tools like calendars, apps, or journals can help manage your care.
  5. Focus on your well-being: Beyond medical treatment, focusing on your mental and emotional well-being is essential. Activities like meditation, gentle exercise, or hobbies can improve your quality of life and help manage your stress and anxiety.