Genetic Kidney Diseases

Comprehensive, Compassionate Care for Hereditary Kidney Conditions

In some cases, kidney disease can result from genetic conditions. The Kidney Genetics Center at Beth Israel Deaconess Medical Center (BIDMC) specializes in diagnosing and managing these inherited kidney diseases. If you have a known or suspected genetic condition, we provide evaluation and counseling for you and your family. With genetic testing and a team of experts at your side, we can help you understand your risk, and if necessary, help you manage your disease.

Understanding Genetic Kidney Disorders

Genetic kidney disorders are caused by mutations or changes in the DNA sequence of a gene. These changes may cause you to have a certain kidney disease or to be at increased risk for it. Often, gene changes are inherited. Your parents pass the mutations on to you. For instance, in polycystic kidney disease, it’s likely that you have at least one close relative who also has the condition. But problems can also occur during the early stages of fetal development. They may initially go unnoticed.

The most common kidney conditions we assess include:

• Autosomal dominant tubulointerstitial kidney disease: A group of diseases that affect your kidneys’ tubules. Tubules are tiny structures that help remove waste and return needed substances to your blood.
• Genetic electrolyte and acid-base disorders: Problems that affect minerals in your blood, such as sodium and potassium, that help your body function correctly and the acid balance in your blood.
• Inherited glomerular/proteinuric diseases: Conditions that affect glomeruli, the tiny blood vessels that filter your blood or cause high levels of protein in your urine. Pediatric kidney disease in adulthood, including the following conditions:
• Ciliopathy syndromes: Problems with the hair-like structures that monitor urine flow and help regulate urine concentration
• Congenital anomalies of kidney and urinary tract (CAKUT): Abnormalities of your kidney and urinary tract that are present at birth
• Genetic syndromes: Symptoms or conditions that occur together and affect the kidney
• Nephronophthisis: A condition that causes inflammation and scarring of the kidneys and interferes with how your kidneys work
• Polycystic kidney disease (PKD): A condition that causes fluid-filled cysts to form in your kidneys. The cysts can potentially interfere with how your kidneys work and lead to kidney failure.
• Thrombotic microangiopathy: Damage to the lining of the small blood vessels of the kidney. It can lead to the formation of blood clots that block blood flow.

How to Know if You Should Undergo Genetic Testing

You may wish to consider genetic testing if:

• You have a family history of kidney disease and wonder if genetics are the cause.
• You have no risk factors and no known cause for your kidney disease can be found.
• You're concerned that other family members might be at risk.

Our renal genetics physicians offer primary genetic testing. But we also offer second opinions if you’ve already been tested but your results were unclear. Your primary care doctor or nephrologist (kidney doctor) can make a referral. We can manage your condition with your primary nephrologist and provide long-term follow-up.

Personalized Care for Your Genetic Disorder

If we determine you have a genetic condition, you’ll find all the expertise you need at BIDMC. We consult with other specialists who can address any concerns related to your condition.

Polycystic Kidney Disease Clinic

If you have PKD, you may benefit from the specialized care of our PKD clinic. The clinic is recognized as a Center of Excellence by the PKD Foundation. This designation speaks to our commitment to provide you with the most up-to-date PKD care and expertise. We take great care to identify and address all your health needs.

Kidney Transplant Care

Genetic testing may be important if you require a kidney transplant or are planning on donating a kidney. Whether you are a recipient or donor, our team is here to help you get the best results.