Bilateral renal agenesis

Inheritance

How is bilateral renal agenesis inherited?

Usually, bilateral renal agenesis is multifactorial, meaning that a mix of genes and environmental factors cause it. When bilateral renal agenesis has a known genetic cause resulting from changes or mutations in ITGA8, RET, or FGF20 genes, inheriting the change can result in a range of kidney defects from a "silent" kidney malformation such as a slightly malformed kidney to the severe and deadly bilateral renal agenesis.

In inherited forms of bilateral renal agenesis, the disease is usually inherited in an autosomal recessive manner. Autosomal recessive inheritance means that an individual has to inherit two nonworking copies of a specific gene, one from each parent, in order to show symptoms of the disease or condition. However, there are also reports of autosomal dominantly inherited kidney defects including bilateral renal agenesis. Autosomal dominant inheritance means that an individual only needs to inherit one nonworking copy of a specific gene in order to show symptoms of the disease or condition. In both cases, not everyone who inherits one or two nonworking genes will have bilateral renal agenesis. There is variable expression and incomplete penetrance, as the changed gene that could cause kidney problems is passed from one generation to the next. Variable expression means that the type and severity of the condition, in this case kidney problems, can be different between different people, even those within the same family. Reduced penetrance occurs when not every person who has the necessary gene change will have kidney issues. Talking to a genetic professional can help you understand if genetic testing may be right for you. 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.

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What genes are related bilateral renal agenesis?

What genes are related bilateral renal agenesis?

Individuals with mutations in ITGA8, RET, or FGF20 may have a genetic condition called Hereditary Renal Adysplasia or Renal Hypodysplasia/aplasia (RHDA). Changes or mutations in the ITGA8, RET, or FGF20 genes can result in a range of kidney defects from a "silent" kidney malformation such as the absence of one kidney (unilateral renal agenesis) to the severe and deadly bilateral renal agenesis. 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.

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