Autosomal dominant polycystic kidney disease
Overview
What is autosomal dominant polycystic kidney disease syndrome?
Autosomal dominant polycystic kidney disease or ADPKD is a genetic disorder. This means that people have a problem in a specific gene. People have about 20,000-25,000 genes in their bodies. Genes are like our body's instruction manual - they control the growth, development and normal function of the body. Because of a change in one of at least two different genes, people with ADPKD lack a protein. These proteins are vital to the health, development and function of the kidneys. Affected individuals develop thousands of cysts in the kidneys that damage the kidneys and impair their function. For many people, the disease will progress to end-stage renal failure, requiring a kidney transplant, usually later in adulthood. Despite its name, cysts can also form in other areas of the body damaging other organs and causing symptoms unrelated to the kidneys. This includes the liver, heart, central nervous system, and the gastrointestinal tract are other areas that can be involved. The symptoms, severity and progression varies. This means how the disease affects one person can be very different from how it affects another person. This is true even for people in the same family. Most people do not develop symptoms until they are adults. Some people may never develop symptoms throughout their entire lives. However, sometimes children will show symptoms. In most people, ADPKD is caused by a change in one of two genes, the PKD1 gene or the PKD2 gene.
References
- Polycystic Kidney Disease. Genetics Home Reference website. Accessed Jan 20, 2017. https://ghr.nlm.nih.gov/condition/polycystic-kidney-disease#
- Harris PC, Torres VE. Polycystic Kidney Disease, Autosomal Dominant. GeneReviews website. Accessed Jan 20, 2017. https://www.ncbi.nlm.nih.gov/books/NBK1246
- Srivastava A, Patel N. Autosomal dominant polycystic kidney disease. Am Fam Physician. 2014;90(5):303-7.
- Autosomal Dominant Polycystic Kidney Disease. The National Organization for Rare Diseases website. Accessed Jan 20, 2016. https://rarediseases.org/rare-diseases/autosomal-dominant-polycystic-kidney-disease/
- Torres VE, Bennett WM. Diagnosis and Screening for Autosomal Dominant Polycystic Kidney Disease. UpToDate website. Accessed Dec 14, 2016. http://www.uptodate.com/contents/diagnosis-of-and-screening-for-autosomal-dominant-polycystic-kidney-disease?source=search_result&search=polycystic+kidney&selectedTitle=1~60
More Overview Content
Are there other names for autosomal dominant polycystic kidney disease syndrome?
How common is autosomal dominant polycystic kidney disease syndrome?
What is the usual abbreviation for autosomal dominant polycystic kidney disease syndrome?
Are there other names for autosomal dominant polycystic kidney disease syndrome?
There are no others names for autosomal dominant polycystic kidney disease. The disorder was once called adult onset polycystic kidney disease because symptoms usually do not develop until adulthood. However, doctors now know that sometimes children and even infants will develop symptoms so that name is no longer used. Autosomal dominant polycystic kidney disease is abbreviated ADPKD. There is a related, but distinct disorder called autosomal recessive polycystic kidney disease, which involves a change in both copies of a different gene and is a more severe disorder.
References
- Autosomal Dominant Polycystic Kidney Disease. The National Organization for Rare Diseases website. Accessed Jan 20, 2016. https://rarediseases.org/rare-diseases/autosomal-dominant-polycystic-kidney-disease
- Niaduet P. Autosomal Dominant Polycystic Kidney Disease in Children. UpToDate website. Accessed Dec 14, 2016. http://www.uptodate.com/contents/autosomal-dominant-polycystic-kidney-disease-in-children
- Harris PC, Torres VE. Polycystic Kidney Disease, Autosomal Dominant. GeneReviews website. Accessed Jan 20, 2017. https://www.ncbi.nlm.nih.gov/books/NBK1246
How common is autosomal dominant polycystic kidney disease syndrome?
Autosomal dominant polycystic kidney disease is the most common inherited cause of kidney disease. The prevalence is estimated to be somewhere between 1 in 400 to 1,000 in the general population. Prevalence is the measurement of all individuals affected by the disease at a particular time. Incidence is the amount of new people with a disorder or newly-diagnosed. It is estimated to affect as many as 600,000 people in the United States have the disorder. Many people may not known they have the disorder because they do not have symptoms, or only have mild symptoms. The disorder accounts for about 5% of all people needing dialysis or a kidney transplant in the United States. The disorder can affect people of any race or ethnic background.
References
- Torres VE, Bennett WM. Diagnosis and Screening for Autosomal Dominant Polycystic Kidney Disease. UpToDate website. Accessed Dec 14, 2016. http://www.uptodate.com/contents/diagnosis-of-and-screening-for-autosomal-dominant-polycystic-kidney-disease?source=search_result&search=polycystic+kidney&selectedTitle=1~60
- Harris PC, Torres VE. Polycystic Kidney Disease, Autosomal Dominant. GeneReviews website. Accessed Jan 20, 2017. https://www.ncbi.nlm.nih.gov/books/NBK1246
- Autosomal Dominant Polycystic Kidney Disease. The National Organization for Rare Diseases website. Accessed Jan 20, 2016. https://rarediseases.org/rare-diseases/autosomal-dominant-polycystic-kidney-disease
What is the usual abbreviation for autosomal dominant polycystic kidney disease syndrome?
The medical abbreviation for autosomal dominant polycystic kidney disease is ADPKD. Most people with this disorder have a change in one of two genes, either the PKD1 gene or the PKD2 gene. They are sometimes classified as having autosomal dominant polycystic kidney disease type 1 (ADPKD1 or PKD1), and autosomal dominant polycystic kidney disease type 2 (ADPKD2 or PKD2).
References
- Polycystic Kidney Diseases 1; PKD1. Online Mendelian Inheritance in Man (OMIM) website. Accessed Jan 20, 2017. omim.org/entry/173900
- Autosomal Dominant Polycystic Kidney Disease. The National Organization for Rare Diseases website. Accessed Jan 20, 2016. https://rarediseases.org/rare-diseases/autosomal-dominant-polycystic-kidney-disease
