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Kidney ultrasound in ADPKD.

[Click here to view the ADPKD patient brochure.]

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common, life-threatening single-gene disease.  It affects over 500,000 individuals in the United States and 12 million worldwide.  This disease is the fourth leading cause of kidney failure in the US. 

ADPKD does not discriminate based on gender, race, ethnicity or geography.  People with a family history of ADPKD and younger people who develop high blood pressure may be diagnosed with ADPKD.

In ADPKD, kidneys enlarge with age because they contain many cysts, or fluid-filled sacs.  Over years, these cysts grow in size and in number and lead to kidney failure in about half of ADPKD patients.
 
Medical evaluation consists of blood and urine tests, ultrasound or kidney MRI, and sometimes genetic testing.

At New York University (NYU) Medical Center our medical experts are highly experienced in treating ADPKD and its complications, as well as providing dialysis and transplants to kidney failure patients.  We also guide patients to important clinical trials.  NYU researchers are at the cutting edge of investigative science in developing potential therapies for ADPKD.

Frequently Asked Questions regarding ADPKD:

What do the kidneys do?
What is Autosomal Dominant Polycystic Kidney Disease (ADPKD)?
What causes ADPKD?
How do you know if you have ADPKD?
What are the symptoms of ADPKD?
How is ADPKD treated?
How can NYU Medical Center help an ADPKD patient?

For more information:

NYU nephrologists who are highly skilled in the diagnosis and management of ADPKD are located in the offices of the Faculty Group Practice.  [Click here for more information on PKD in Spanish and English.]

Please contact us at:

Faculty Practice Tower
530 First Avenue, Suite 9N
New York, NY 10016
Tel: (212) 263-5851

What do the kidneys do?

The kidneys are normally about the size of a fist and are located just below the rib cage near the back.  They perform numerous essential functions, such as:

  • Remove the body’s waste products, drugs and toxins
  • Regulate fluid balance
  • Control blood pressure
  • Regulate mineral levels in the blood
  • Produce a hormone that stimulates red blood cell production
  • Help keep bones healthy and strong by activating Vitamin D

[Back to FAQs]

What is Autosomal Dominant Polycystic Kidney Disease (ADPKD)?

In this disease cysts develop inside the kidneys.  Cysts are fluid-filled sacs.  Theses cysts grow in size and number over years, impairing normal kidney functions.  As the cysts grow, the kidneys enlarge in size.  Over time, this causes kidney failure in about half of ADPKD patients.

[Back to FAQs]

What causes ADPKD?

This disease is caused by a mutation in a single gene.  A gene carries a code for a protein, and polycystin protein becomes abnormal if the gene is mutated.  Most mutations run in families, and occasionally a new mutation occurs in a person without a family history of ADPKD.  This gene and its protein are important in controlling proper cell growth and development.  When the gene is mutated, this growth process goes awry, and cells form abnormal cysts.

[Back to FAQs]

How do you know if you have ADPKD?

There are a few different scenarios where ADPKD may be suspected:

  • People with a family history of ADPKD
  • Younger people who develop high blood pressure
  • There are signs and symptoms that commonly occur in ADPKD (see below)
  • When a test is done for another reason, and cysts are found in the kidneys
  • ADPKD affects both genders and all races equally
  • ADPKD does not skip a generation

[Back to FAQs]

What are the symptoms of ADPKD?

There are usually no symptoms early in the disease.  Those people that do not progress to kidney failure may never feel any symptoms.  Other people may have:

  • High blood pressure (a.k.a. hypertension) – the most common problem that begins early in the disease course
  • Blood in the urine (a.k.a. hematuria)
  • Chronic back or flank pain
  • Acute pain – this may relate to a kidney infection, stone, or cyst rupture
  • Urinary tract infection (a.k.a UTI)
  • Cyst infection – this may present as fever and pain without showing up as an infection on urinalysis and urine culture
  • Kidney stone (a.k.a. nephrolithiasis)

[Back to FAQs]

How is ADPKD treated?

Currently, there is no established treatment to reverse or slow the progression of ADPKD, but testing of new therapies is underway. 

  • The only available treatment for kidney failure from ADPKD is dialysis. 
  • The only available cure is kidney transplantation. 
  • Nonetheless, close monitoring by a nephrologist is very important.  Our doctors at NYU Medical Center are experts in treatment of hypertension, prevention of heart disease, management of anemia and bone health – all of which are essential in the health of an ADPKD patient. 
  • Our Chronic Kidney Disease staff is knowledgeable and helps them deal with kidney insufficiency and to prepare some patients for dialysis. 
  • Our Transplantation team provides thorough pre- and post-transplant care 
  • A number of studies of possible treatments for ADPKD have been published recently, and promising clinical trials are in progress.

[Back to FAQs]

How can NYU Medical Center help an ADPKD patient?

Our nephrologists specialize in diagnosis and management of ADPKD, and guide to clinical trials that evaluate new therapies.  Our researchers are working at the cutting edge of science to derive potential therapies for ADPKD and to quickly translate them into clinical trials.

We provide:

  • Accurate methods of diagnosis of ADPKD
  • Advice on nutrition and lifestyle modifications
  • Blood pressure management
  • Assessment of kidney cyst volume with state-of-the-art kidney imaging
  • Management of cardiovascular risk, anemia, bone health
  • Kidney stone treatments
  • Access to state-of-the-art medical care
  • Access to Transplantation
  • Access to clinical trials

[Back to FAQs]

Online resources: