Autosomal dominant polycystic kidney disease

Causes

What gene change/mutation/etc causes autosomal dominant polycystic kidney disease syndrome?

Most people with autosomal dominant polycystic kidney disease (ADPKD) have a change in one of two genes, either the PKD1 gene or the PKD2 gene. Gene changes in the PKD1 gene account for about 85% of people who have this disorder. Most of the rest have a change in the PKD2 gene. Very rarely, people with ADPKD do not have a change in either of these genes, which suggests that there may be another gene or genes that can cause the disorder.

People have about 20,000-25,000 genes in their bodies. Our genes contain our body's genetic information, called DNA; genes are segments of DNA found on chromosomes. Genes are inherited from our parents and passed on to our children. Genes are like our body's instruction manual - they control the growth, development and normal function of the body. Genes produce specific proteins that the body needs to grow and work properly. When there is an unexpected change in a gene, the protein that the gene produces may be absent or not work properly.

Generally, people with a change in the PKD2 gene have less severe disease. This is particularly true for women. Symptoms of ADPKD tend to appear later in adulthood in people with a change in the PKD2 gene. This includes declining kidney function as many people with a PKD2 gene change retain adequate kidney function well into adulthood.

A medical professional nearby can discuss information about gene changes in ADPKD. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website . Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

References
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More Causes Content

How does the gene change cause symptoms in autosomal dominant polycystic kidney disease syndrome?

Are there types of autosomal dominant polycystic kidney disease syndrome?

Does anything beside a gene change cause autosomal dominant polycystic kidney disease?

How does the gene change cause symptoms in autosomal dominant polycystic kidney disease syndrome?

In most people, changes (mutations) in one of two genes causes autosomal dominant polycystic kidney disease (ADPKD), either the PKD1 gene or the PKD2 gene. These genes produce proteins. The PKD1 gene produces a protein called polycystin 1; the PKD2 gene produces a protein called polycystin 2. These proteins have several roles in the body. Researchers do not fully understand these roles or how specifically these proteins function. Researchers do know that the two proteins work together to ensure the proper development health and function of the kidneys. Because of changes to these genes, thousands of cysts can develop in the kidneys and other areas of the body. The exact way that changes to these genes cause cysts to form is not fully understood. Researchers are studying this disease to determine how cysts form, which may lead to new ways to treat the disorder.

References
Are there types of autosomal dominant polycystic kidney disease syndrome?

Most people with autosomal dominant polycystic kidney disease (ADPKD) have a change (mutation) in one of two genes, the PKD1 gene or the PKD2 gene. About 85% of people have a change in the PKD1 gene. Sometimes this called autosomal dominant polycystic kidney disease type 1. Most of the remaining people have a change in the PKD2 gene. Sometimes this is called autosomal dominant polycystic kidney disease type 2. Very rarely, people with ADPKD do not have a change in either of these genes, suggesting that another gene or genes can cause the disorder. Generally, the PKD1 gene is associated with an earlier onset of symptoms and faster progression of symptoms.

A genetic professional nearby can discuss information about gene changes in these genes and ADPKD. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website . Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

References
Does anything beside a gene change cause autosomal dominant polycystic kidney disease?

Most people with autosomal dominant polycystic kidney disease (ADPKD) have a change (mutation) in one of two genes, the PKD1 or the PKD2 gene. Generally, the PKD1 gene is associated with an earlier onset of symptoms and faster progression of symptoms. How the disorder affects one person can be very different from how it affects another person. Doctors believe that ADPKD may be influenced by genetic modifiers and environmental factors. Although ADPKD is caused by changes in the PKD1 or PKD2 genes, other genes may influence how severe the disorder is or what symptoms occur or how fast it progresses. These genes are called genetic modifiers. An environmental factor is something in the environment that interacts with a person's genetic makeup and affects how a disease progresses in a person.

References

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