Polycystic Kidney Disease Clinic

Welcome to The GW Medical Faculty Associates Polycystic Kidney Disease Clinic led by Ehsan Nobakht, MD, FASN, a physician and associate professor of medicine who has extensive experience and specializes in the management and treatment of autosomal dominant polycystic kidney disease (ADPKD). Our clinic works with experts in cardiology, neurology, radiology, surgery and more to ensure our patients receive the personalized care needed to treat patients afflicted with this kidney disease and their specific diagnosis.

We partner with the PKD Foundation to deliver high-quality evidence-based treatment and opportunities by participating in clinical trials.

What is autosomal dominant polycystic kidney disease (ADPKD)?

• Autosomal dominant polycystic kidney disease (ADPKD) is the most prevalent inherited kidney disease. An estimated 600,000 people with ADPKD live in the United States, and there are over 12.4 million patients worldwide. It is the fourth leading cause of end stage kidney disease (ESKD) requiring dialysis or kidney transplantation.
  
   
• ADPKD is due to defects in PKD1 and PKD2 genes that encode the proteins polycystin-1 and polycystin-2, respectively. These two proteins regulate cells in the kidneys and liver. Mutations of the PKD1 or PKD2 gene leads to formation of cysts primarily in the kidney and liver but also affects other organs.
  
   
• The possibility of transmitting ADPKD from an affected parent to a child is 1 in 2, or 50 percent. Approximately 50 percent of individuals with ADPKD develop end stage kidney disease by the age of 60.
  
   
• Patients with PKD1 mutations have more severe disease and require dialysis or transplantation earlier compared to those with PKD2 mutations. Recently new gene mutations associated with ADPKD have been discovered.
  
   
• ADPKD is a multi-system disease affecting kidney, liver, gastrointestinal track, blood vessels, heart and brain.

Why early diagnosis is important?

• Early diagnosis is essential to implement preventive measures, genetic counseling and if needed screening of other family members.

• Identification of high risk individuals (by CT, MRI or genetic testing) will permit treatment of ADPKD to slow the cyst growth and loss of kidney function

How do we make the diagnosis for ADPKD?

• The diagnosis of ADPKD is established primarily by imaging studies of the kidneys such as kidney ultrasound, computerized tomography (CT) scan or magnetic resonance imaging (MRI).
• Size of the kidney measured by special CT and MRI tests which will enable us to determine if the patient is at high risk for disease progression.
• We may also recommend genetic testing in order to establish the diagnosis of ADPKD and also provide with the most accurate prognostic information. 

More information

For more information about ADPKD, please visit the PKD Foundation website.