Autosomal dominant polycystic kidney disease
- Polycystic kidney disease, adult type
Your QuestionI inherited polycystic kidney disease from my mother. Over the past two years I have had two CT scans which show that the condition has not changed. One side of my kidney is very large and I am currently taking medicine for high blood pressure. I am worried because I have three children. What can I do to manage my condition?
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Questions on this page
- What is autosomal dominant polycystic kidney disease (ADPKD)?
- What are the symptoms of autosomal dominant polycystic kidney diesase (ADPKD)?
- How is autosomal dominant polycystic kidney disease (ADPKD) diagnosed?
- What is the treatment for autosomal dominant polycystic kidney disease (ADPKD)?
- How is autosomal dominant polycystic kidney disease (ADPKD) inherited?
In an individual with a positive family history of ADPKD, the enlargement of the kidneys or liver on physical examination is highly suggestive of the diagnosis. The presence of hypertension, mitral valve prolapse, or abdominal wall hernia is also suggestive of the diagnosis. Definite diagnosis, however, relies on the imaging described above or on a specific genetic test.
The genetic testing for ADPKD detects changes (mutations) in two genes, called PKD1 and PKD2. Genetic testing is typically performed first in people who have a diagnosis or symptoms of ADPKD. If a mutation is found, unaffected family members can be tested to determine if they will eventually develop the condition. To see information about laboratories that perform genetic testing for ADPKD type 1, click here. For information about laboratories that perform genetic testing for ADPKD type 2, click here. Most of the laboratories listed do not accept direct contact from patients and their families; therefore, those who are interested in learning more may need to work with a health care provider or a genetics professional.
ADPKD is inherited as an autosomal dominant trait in families. This means that if one parent has the disease, there is a 50-percent chance that the disease will pass to a child of either gender. In this form, one out of a person's two copies of the PKD1 or PKD2 gene must be altered in order for the person to develop ADPKD. In about 90 percent of these cases, an affected person inherits the mutation from one affected parent. The other 10 percent of cases result from new mutations in one of the genes and occur in people with no history of the disorder in their family.
Although one altered copy of a gene in each cell is sufficient to cause the disorder, an additional mutation in the second copy of the PKD1 or PKD2 gene may make cysts grow faster and increase the severity of the disease. The rate at which cysts enlarge and cause a loss of kidney function varies widely, and may be influenced by mutations in other, as yet unidentified, genes.
- Polycystic Kidney Disease. National Kidney and Urologic Diseases Information Clearinghouse. November 2007; http://kidney.niddk.nih.gov/kudiseases/pubs/polycystic/. Accessed 6/22/2011.
- Peter C Harris, Vicente E Torres. Polycystic Kidney Disease, Autosomal Dominant. GeneReviews. June 2, 2009; http://www.ncbi.nlm.nih.gov/books/NBK1246/#pkd-ad.Diagnosis. Accessed 6/13/2011.
- Learning About Autosomal Dominant Polycystic Kidney Disease . National Human Genome Research Institute (NHGRI). 2009; http://www.genome.gov/20019622. Accessed 1/19/2010.
- Polycystic kidney disease. Genetics Home Reference (GHR). 2006; http://ghr.nlm.nih.gov/condition=polycystickidneydisease. Accessed 1/19/2010.