• UCLA Health
  • myUCLAhealth
  • School of Medicine
CORE Kidney

CORE Kidney Health Program

CORE Kidney
  • About Us
    • CORE Kidney
    • Circle of CORE
    • Bruin Beans
    • Our Locations
    • In the News
    • Green Ribbon Spotlights
    • Photo Gallery
  • Our Expert Team
    • Adult Nephrology
    • Pediatric Nephrology
    • Transplant
  • Conditions Treated
    • Kidneys
    • Nephro-Genetics
    • Chronic Kidney Disease
    • Acid-Base Electrolytes
    • Acute Kidney Injury (AKI)
    • ADPKD
    • Alport Syndrome
    • Diabetic Kidney Disease
    • ESRD | Dialysis
    • Fabry's Disease
    • Glomerulonephritis
    • High Blood Pressure
    • Kidney Stones
    • Living Kidney Donors
    • Peritoneal Dialysis
    • Healthcare Provider Education
  • Events
    • Upcoming Events
    • Past Events
  • Make a Gift
    • Monetary Donations and Philanthropy
    • Volunteer Your Time
    • Register to be an Organ Donor
    • Become a Living Organ Donor
  • Patient Resources
    • Clinical Research Trials
    • Eating Healthy
    • Make an Appointment
    • Patient Stories
    • Support Groups
    • Wellness
    • Other Resources
  • UCLA Health
  • myUCLAhealth
  • School of Medicine

CORE Kidney Health Program

ADPKD

ADPKD

ADPKD

  • PKD Research
  • PKD Information
    • Polycystic Kidney Disease (PKD)
    • Diagnosis of PKD
      • Imaging Tests
    • Disease Associations
    • Genetics
    • Nutrition
    • Pathophysiology of PKD
    • Pediatric PKD
    • PKD and the Liver
    • PKD and Pregnancy
    • Webinars
  • Patient Stories
  • Support Groups
  • PKD Research
  • PKD Information
  • Patient Stories
  • Support Groups
  • Polycystic Kidney Disease (PKD)
  • Diagnosis of PKD
  • Disease Associations
  • Genetics
  • Nutrition
  • Pathophysiology of PKD
  • Pediatric PKD
  • PKD and the Liver
  • PKD and Pregnancy
  • Webinars
  1. Home
  2. Conditions Treated
  3. ADPKD
  4. PKD Information
  5. Genetics

Genetics

Share this

PKD usually runs in families….

Genetics of Autosomal Dominant Polycystic Kidney Disease:

Approximately 85 percent of families with autosomal dominant polycystic kidney disease (ADPKD) have a mutation in the PKD1 gene, located on chromosome 16; these people have PKD1 disease. The remaining 15 percent have a mutation in the PKD2 gene on chromosome 4; this is called PKD2 disease.

In some cases, it is not possible to detect which gene is mutated. PKD2 disease is milder; therefore, it often presents later in life and is sometimes not diagnosed at all. Thus, it is likely that more than 15 percent of all people with ADPKD have PKD2 disease.

Kidney failure occurs at an earlier age in PKD1 patients; the average age of end-stage renal disease (that is, needing dialysis or a transplant) is approximately 55 years in PKD1 versus 74 years in PKD2 patients.

In approximately 15 percent of cases, ADPKD occurs in people without a family history of the disease (ie, family members have been evaluated and have no evidence for PKD). This is due to the patient having a new (de novo) genetic mutation that was not present in either parent.

Genetics of Autosomal Recessive Polycystic Kidney Disease:

Mutation of the PKHD1 gene — Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1 gene located on chromosome 6, which encodes fibrocystin (also referred to as polyductin), a large protein. Although the function of fibrocystin is currently unknown, it is found in different parts of the ducts in the kidney, in some parts of the bile ducts in the liver, and also in the pancreas and lungs.

The largest database for PKHD1 mutations contains more than 750 different mutations. Most patients with ARPKD are compound heterozygotes, who carry two different mutant alleles.

If you have polycystic kidney disease and you're considering having children, a genetic counselor can help you assess your risk of passing the disease to your offspring.


Disclaimer: The UCLA Health System cannot guarantee the accuracy of such information. The information is provided without warranty or guarantee of any kind. Please speak to your Physician before making any changes. 

Like Us on Facebook Follow Us on Twitter Subscribe to Our Videos on YouTube Follow us on Instagram Connect with Us on LinkedIn Follow us on Pinterest
UCLA Health hospitals ranked best hospitals by U.S. News & World Report
  • UCLA Health
  • Find a Doctor
  • School of Medicine
  • School of Nursing
  • UCLA Campus
  • Directory
  • Newsroom
  • Subscribe
  • Patient Stories
  • Giving
  • Careers
  • Volunteer
  • International Services
  • Privacy Practices
  • Nondiscrimination
  • Billing
  • Health Plans
  • Emergency
  • Report Broken Links
  • Terms of Use
  • 1-310-825-2631
  • Maps & Directions
  • Contact Us
  • Your Feedback
  • Report Misconduct
  • Get Social
  • Sitemap
Like Us on Facebook Follow Us on Twitter Subscribe to Our Videos on YouTube Follow us on Instagram Connect with Us on LinkedIn Follow us on Pinterest

Sign in to myUCLAhealth

Learn more about myUCLAhealth