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.

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

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

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