4/17/11

How is Polycystic Kidney Disease inherited?


How is Polycystic Kidney Disease inherited?and is it a dominant trait, a recessive trait, or incomplete dominence?

Posted by okarol
ADPKD: Because PKD is an inherited disorder, the dominant form of the disease (ADPKD) is passed from one generation to the next by an affected parent. An ADPKD parent has a 50% chance of passing the PKD mutation to each of his/her children at conception - having a child who inherits ADPKD with each pregnancy, no matter how many children a person has. In some families, all the children are affected; in other families, none are. Many families with multiple children will have affected and unaffected children. Although most individuals with ADPKD have a family history, scientists have also discovered that approximately 10-20 percent of the PKD patient community became affected through spontaneous mutation.

Two genes that cause ADPKD have been identified. About 85% of people with ADPKD have mutations in the PKD1 gene, located on chromosome 16. The remaining 15% of individuals have mutations in the PKD2 gene located on chromosome 4. There are no other PKD genes that have been identified to date.

The disease caused by ADPKD1 is more severe than that caused by ADPKD2. Individuals with mutations in the PKD1 gene develop cysts, hypertension and loss of kidney function at an earlier age compared to the ADPKD2 gene.

ARPKD: This recessive disease requires a mutated gene from each parent for the disease to manifest in a child, who has, then, 2 mutated genes. In most cases, there is no family history of the disease, and the parents do not have the disease themselves but are carriers.

Know better? Leave your own answer in the comments! Learn basic information on kidney disease from the experts at Kidney Disease Info Blog.


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