Autosomal dominant polycystic kidney disease

Inheritance

How is autosomal dominant polycystic kidney disease inherited?

Autosomal dominant polycystic kidney disease (ADPKD) is inherited in an autosomal dominant manner. This is one way a disorder or trait can be passed down through a family. The first word, "autosomal," means on a chromosome that both males and females carry. Therefore, the disorder can affect either gender. The second word, "dominant," means a change in one copy of the altered gene that causes the disorder is enough for them to develop ADPKD. Two genes that, when altered or mutated, are known to cause this disorder. They are the PKD1 or the PKD2 genes. Everyone has two copies of every gene - one inherited from our mother and one from our father - for a dominant condition, only one of them needs to have the problem. This means that if a parent carries an altered PKD1 or PKD2 gene, they have a 50% chance to pass the affected gene to each of their offspring, regardless of gender. This also means that there is a 50% chance that an affected parent would not pass this on to their children. Genetic testing may be available to determine if a child has inherited the altered gene. Genetic testing of adolescents under the age of 18 for ADPKD, a serious disorder without a specific treatment, is controversial and many doctors do not recommend it.

In about 5%-10% of people, there is no previous history of ADPKD in the family. The altered gene occurs randomly, most likely after fertilization. This is also called a de novo mutation. The altered gene in the child can be passed on as an autosomal dominant trait. In families with a child with a de novo mutation, the likelihood of having another child with ADPKD is extremely low.

If you have a family member with ADPKD and you would like to know if you are a carrier, talk to your doctor or meet with a genetic counselor to discuss testing options.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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How likely is autosomal dominant polycystic kidney disease to be passed on in a family?

What does it mean to have inherited a "variant" or "variant of unknown significance" in the gene for autosomal dominant polycystic kidney disease?

How likely is autosomal dominant polycystic kidney disease to be passed on in a family?

We each get two copies of most of our genes from our parents. One copy comes from our mother and the other copy comes from our father. In autosomal dominant polycystic kidney disease (ADPKD), a person only needs one altered PKD1 or PKD2 gene to have the disorder. This means that only one parent must pass along a nonworking copy of one of these genes. In most families with this disorder, one parent will have an altered PKD1 or PKD2 gene, which causes their disease. So, each of their children will have a 50% chance of inheriting that mutation and developing the disease. Very rarely, people with ADPKD do not have a change in either of these genes. This means that another gene or genes may cause the disorder.

Sometimes people who have the disorder are the first person in the family with the disorder. This occurs because of a de novo mutation, which means that the altered gene occurs randomly, most likely after fertilization. In families with a child with a de novo mutation, the likelihood of having another child with ADPKD is extremely low.

If you have a family member with ADPKD and you would like to learn more about the genetics of the disorder, talk to your doctor or meet with a genetic counselor to discuss testing options. 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
What does it mean to have inherited a "variant" or "variant of unknown significance" in the gene for autosomal dominant polycystic kidney disease?

Autosomal dominant polycystic kidney disease (ADPKD) is caused by a change (variant) in one of two different genes, the PKD1 or the PKD2 gene. Not all changes in a gene necessarily cause disease. If a change is known to cause ADPKD, it is known as a pathogenic or disease-causing variant. Sometimes gene changes are found and scientists are unsure what it means, either because it has not been found before or has only been found in a few people. This is known as a variant of unknown significance. If you have a variant of unknown significance in one of these three genes, talk to your doctor about further testing that may help find out whether the gene change is pathogenic or not. A genetic counselor may also be able to help you review your test results. 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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