Autosomal dominant polycystic kidney disease

What is the cause of autosomal dominant polycystic kidney disease?

Autosomal dominant polycystic kidney disease (ADPKD) is caused by genetic changes in the PKD1 , PKD2 , GANAB and DNAJB11 genes. Genetic changes in PKD1 and PKD2 account for most cases of this condition.

Last updated on 05-01-20

How is autosomal dominant polycystic kidney disease (ADPKD) diagnosed?

Autosomal dominant polycystic kidney disease (ADPKD) is diagnosed based on the symptoms, clinical examination, family history and imaging studies of the kidneys. The most common form of diagnostic kidney imaging is ultrasound, but more precise studies, such as computerized tomography (CT) scans or magnetic resonance imaging (MRI) are also widely used.

Genetic testing may also be used to help confirm the diagnosis. It is typically performed first in people who have a diagnosis or symptoms of ADPKD. If a genetic change is found, unaffected family members can be tested to determine if they will eventually develop the condition.

Last updated on 05-01-20

How is autosomal dominant polycystic kidney disease (ADPKD) inherited?

Autosomal dominant polycystic kidney disease (ADPKD) is inherited as an autosomal dominant trait in families. While many people with ADPKD have a family member with the same condition, ADPKD can also occur in an individual without a family history of ADPKD. This happens as the result of a new genetic change in one of the genes that causes ADPKD.

Last updated on 05-01-20

What might impact the severity of the signs and symptoms of autosomal dominant polycystic kidney disease (ADPKD)?

Both genetic and environmental factors appear to play a role in affecting the severity of the signs and symptoms seen in people who have ADPKD.

Mutations in two genes, PKD1 and PKD2 , have been associated with ADPKD. A clear association exists between the severity of kidney disease and the specific gene involved. For instance, mutations in the PKD1 gene are associated with more severe disease with an earlier age at diagnosis, higher incidence of high blood pressure (hypertension) and blood in the urine (hematuria), and earlier onset of end-stage kidney disease (ESKD), with ESKD occurring on average 20 years earlier in PKD1 than in PKD2. Some have also suggested that the specific mutation present in the PKD1 gene may correlate with disease severity. The presence of certain mutations in other genes such as the ACE or ENOS may increase a person's risk for disease progression; however, this association is controversial.

The sex of the person may also impact the severity of ADPKD, namely in PKD2. It appears that males tend to progress to end-stage kidney disease much more quickly than females; however, no sex difference has been observed in PKD1.

Environmental influences that might impact disease severity may include, but are not limited to, hormones, caffeine, and smoking.

Last updated on 05-01-20

If a person inherits autosomal dominant polycystic kidney disease (ADPKD) from a parent who is not severely affected, does this mean that the person's signs and symptoms will also be less severe?

No, the severity of the signs and symptoms in a person do not appear to correlate with the severity of the disease of the person from which the ADPKD was inherited. The signs and symptoms in a child of a parent who has ADPKD may be less or more severe.

Last updated on 05-01-20

Who might be able to provide specific information pertaining to my fiance's autosomal dominant polycystic kidney disease?

In addition to speaking with his health care provider, your fiancé may want to schedule a genetics consultation with a genetics professional. Such a professional can be a source of information for individuals and families regarding genetic diagnosis, natural history, treatment, mode of inheritance, and genetic risks to other family members. To find a genetics clinic, we recommend that your fiancé contact his primary doctor for a referral.

Last updated on 05-01-20

What is the long-term outlook for people with autosomal dominant polycystic kidney disease?

The symptoms and severity of autosomal dominant polycystic kidney disease (ADPKD) vary from person to person, therefore it is difficult to predict the long-term outlook. In general, ADPKD is a slowly progressive condition, which means the symptoms tend to get worse over time. About half of people with ADPKD will develop kidney failure in adulthood, requiring kidney dialysis and/or kidney transplant.

Last updated on 05-01-20

How many people have autosomal dominant polycystic kidney disease?

The exact number of people with autosomal dominant polycystic dominant kidney disease (ADPKD) is unknown. The estimated number of people with ADPKD may range anywhere from 1/500 – 1/2500 people. It is the most common inherited form of kidney disease. One recent study found that ADPKD is less common than it was previously thought especially when only the cases of people with symptoms are counted.

Last updated on 05-01-20

How might autosomal dominant polycystic kidney disease (ADPKD) be treated?

Treatment for autosomal dominant polycystic kidney disease (ADPKD) is aimed at treating both kidney and non-kidney symptoms. When kidney function starts to decline, treatment is aimed at slowing down the progression to kidney failure. This involves controlling high blood pressure, and making changes in the diet. When individuals with ADPKD develop renal failure, they may need to have dialysis or a kidney transplant.

Specialists involved in the care of someone with ADPKD may include:

  • Radiologist
  • Nephrologist - a doctor who specializes in the care of kidneys
  • Dietician/nutritionist
  • Genetics specialist

Last updated on 05-01-20

Name: National Kidney Foundation 30 East 33rd Street
New York, NY, 10016, United States
Phone: 212-889-2210 Toll Free: 800-622-9010 Fax : 212-689-9261 Email: info@kidney.org Url: https://www.kidney.org/
Name: American Association of Kidney Patients 3505 E. Frontage Rd., Suite 315
Tampa, FL, 33607-1796, United States
Phone: 813-636-8100 Toll Free: 800-749-2257 Fax : 813-636-8122 Email: info@aakp.org Url: http://www.aakp.org
Name: PKD Foundation 1001 E. 101st Terrace, Suite 220
Kansas City, MO, 64131, United States
Phone: +1-816-931-2600 TTY: 1-800-753-2873 (1.800.PKD.CURE) Fax : +1-816-931-8655 Email: pkdcure@pkdcure.org Url: https://pkdcure.org/
Name: The Kidney Foundation of Canada 700-15 Gervais Drive Toronto Ontario M3C 1Y8
Canada
Phone: 416-445-0373 Toll Free: 800-387-4474 Fax : 416-445-7440 Email: kidney@kidney.on.ca Url: http://www.kidney.on.ca
Name: American Kidney Fund, Inc. 6110 Executive Boulevard Suite 1010
Rockville, MD, 20852, United States
Phone: 301-881-3052 Toll Free: 866-300-2900 Email: helpline@kidneyfund.org Url: http://www.kidneyfund.org
Cornec-Le-Gall, E, Alam A, Perrone RD. Autosomal dominant polycystic kidney disease Lancet. Mar 2019; 393(10174). 919-935. Reference Link Chebib FT, Torres VE. Recent advances in the Management of Autosomal Dominant Polycystic Kidney Disease Clin J Am Soc Nephrol. Nov 2, 2018; 13(11). 1765-1776. Reference Link Harris T, Sandford R, EAF Members, Roundtable participants.. European ADPKD Multidisciplinary Position Statement on Autosomal Dominant Polycystic Kidney Disease Care: European ADPKD Forum and Multispecialist Roundtable Participants. Nephrol Dial Transplant. Apr 1, 2018; 33(4). 563-573. Reference Link Chapman AB, Devuyst O, Eckardt KU, Gansevoort RT, et al.. Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference Jul 2015. Kidney Int; 88(1). 17-27. Reference Link Willey C, Kamat S, Stellhorn R, Blais J. Analysis of Nationwide Data to Determine the Incidence and Diagnosed Prevalence of Autosomal Dominant Polycystic Kidney Disease in the USA: 2013-2015 Kidney Dise (Basel). Mar 2019; 5(2). 107-117. Reference Link

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