Kidney disorders are a group of medical conditions that can affect the structure or function of the kidneys. These disorders can prevent the kidneys from playing their vital role of filtering waste products from the blood and regulating blood pressure. What you may not know is that these disorders can be inherited. Let’s learn more about hereditary kidney disorders and how you can navigate these conditions.
What are Hereditary Kidney Disorders?
Hereditary kidney disorders are a group of medical conditions that affect the kidneys and are passed down from parents to children through genes. These disorders can cause a variety of kidney problems, including cysts, inflammation, and scarring. Over time, these can lead to kidney failure and eventually death.
These genetic conditions are caused by mutations in genes that control the development and function of the kidneys. These mutations can be inherited from one or both parents. In some cases, a new mutation can occur in a child during their development.
Unfortunately, kidney disorders that can be passed down genetically are relatively common. Here are some hereditary kidney disorders you should be aware of:
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
ADPKD is the most common type of hereditary kidney disorder. It is caused by a mutation in one of two genes that control the growth and development of kidney cysts. People with ADPKD develop fluid-filled sacs called cysts on their kidneys. Over time, these cysts can grow very large and damage the kidneys.
Alport Syndrome
Alport syndrome is a group of hereditary kidney disorders that can cause hearing loss, vision problems, and kidney disease. This condition is caused by mutations in genes that produce proteins that are essential for the structure and function of the kidneys, ears, and eyes.
Cystinosis
Cystinosis is a rare hereditary kidney disorder that causes a buildup of the amino acid cystine in the cells and tissues of the body. Cystinosis can damage the kidneys, eyes, liver, and other organs.
Fabry Disease
Fabry disease is another rare hereditary kidney disorder. It is caused by a mutation in a gene that produces an enzyme that helps to break down fat molecules. Fabry disease can cause a buildup of fat in the cells and tissues of the body, including the kidneys, heart, and brain.
Nephronophthisis
Nephronophthisis is a group of hereditary kidney disorders that affect the nephrons, the filtering units of the kidneys. Nephronophthisis causes the nephrons to degenerate over time, leading to eventual kidney failure.
How a Nephrologist Can Help You Navigate Genetic Conditions
A nephrologist is a doctor who specializes in the diagnosis and treatment of kidney diseases. Nephrologists can play a vital role in helping people with hereditary kidney conditions navigate their condition and live a full and healthy life.
Diagnosing Hereditary Kidney Disorders
If you have a family history of kidney disease or are experiencing any of the symptoms of a hereditary kidney disorder, it may be time to visit a nephrologist. Diagnosing your condition can help you receive the treatment and care you need as soon as possible. This can be crucial in slowing the progression of the disease and improving your recovery outcomes.
Nephrologists can diagnose hereditary kidney disorders through a combination of family history, physical exam, and laboratory tests. This can include blood tests, urine tests, and genetic testing. Your doctor can also identify problems in your kidneys through diagnostic imaging.
Finding the Best Treatment and Management Strategies
Unfortunately, there is no cure for most hereditary kidney disorders. However, there are several treatments and management strategies that can help slow the progression of the disease and improve the quality of life for people with hereditary kidney disorders.
Treatment options for hereditary kidney disorders vary depending on the specific type of disorder and the severity of the symptoms. Here are some treatment and management strategies your nephrologist may suggest:
- Medication and lifestyle changes: This can help manage symptoms, protect your kidneys, and improve your overall health.
- Dialysis: When a diseased kidney no longer filters blood properly, regular dialysis treatment can replace this function.
- Kidney transplant: A kidney transplant is surgery to replace a diseased kidney with a healthy kidney from a donor. This may be the best treatment option for many people with end-stage kidney disease.
Professional Nephrologist in Marlborough, MA
Living with a hereditary kidney disorder can be challenging. However, your friends, family, and healthcare team can help you on your journey. Nephrologists, in particular, can help diagnose a possible hereditary kidney disorder and find the best way to navigate your condition. With proper management, many people with hereditary kidney disorders can live long and healthy lives.
If you’re worried about navigating these genetic conditions, our nephrologists at Commonwealth Nephrology Associates in Massachusetts are here to provide expert kidney care. We specialize in treating a wide variety of kidney diseases, including hereditary disorders, so you can stay as healthy as possible. Our friendly staff welcomes you to visit any of our several locations convenient to you. You can call our office at (617) 739-2100 for any questions or submit our online appointment form to schedule a consultation.
Book a consultation at any location near you. You can find offices of the Commonwealth Nephrology Associates in Norfolk, Natick, South Weymouth, Dorchester, and Framingham, MA.
