Types of Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease
Autosomal (ôtōˈsōməl) - any chromosome that is not a sex chromosome.
Dominant - Genetics relating to or denoting heritable characteristics that are controlled by genes that are Expressed in offspring even when inherited from only one parent. Often contrasted with Ressesive.
Polycystic(päliˈsistik) - characterized by multiple cysts.
Cyst (sist) - in an animal or plant, a thin-walled, hollow organ or cavity containing a liquid secretion; a sac, vesicle, or bladder.
Definitions from the New Oxford American Dictionary
Autosomal (ôtōˈsōməl) - any chromosome that is not a sex chromosome.
Dominant - Genetics relating to or denoting heritable characteristics that are controlled by genes that are Expressed in offspring even when inherited from only one parent. Often contrasted with Ressesive.
Polycystic(päliˈsistik) - characterized by multiple cysts.
Cyst (sist) - in an animal or plant, a thin-walled, hollow organ or cavity containing a liquid secretion; a sac, vesicle, or bladder.
Definitions from the New Oxford American Dictionary
Picture Source:
http://www.drugs.com/cg/autosomal-dominant-polycystic-kidney-disease.html
What are the symptoms of Autosomal Dominant Polycystic Kidney Disease?
What is the treatment for autosomal dominant polycystic kidney disease?
How is autosomal dominant polycystic kidney disease inherited and how often does it occur?
Sourse: http://www.genome.gov/20019622
http://www.drugs.com/cg/autosomal-dominant-polycystic-kidney-disease.html
What are the symptoms of Autosomal Dominant Polycystic Kidney Disease?
- A person with ADPKD have renal cysts in both of their kidneys
- The growth of PKD cysts slowly replaces much of the normal mass of the kidneys, and can reduce kidney function and lead to kidney failure.
- Can make renal cysts grow in places that they don’t belong in such as the liver and pancreas
- ADPKD can affect blood vessels
- Causes high blood pressure
- Causes heart valve defects
- About half of individuals who have ADPKD develop end-stage kidney disease by the age of 60
- There are two genes known to be associated with ADKPD. PKD1 is found in approximately 85 percent of individuals who have ADPKD. PKD2 is found in about 15 percent of individuals who have ADPKD.
- Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common forms of polycystic kidney disease.
- Scientists use a genetic test to detect mutations in the PKD1 and PKD2 genes, which are the sources of autosomal dominant PKD.
- This test can detect the presence of the autosomal dominant PKD mutations
- Cannot predict the severity of the disease
- No cure is available to prevent the disease so far
What is the treatment for autosomal dominant polycystic kidney disease?
- Scientists use a genetic test to detect mutations in the PKD1 and PKD2 genes, which are the sources of autosomal dominant PKD.
- This test can detect the presence of the autosomal dominant PKD mutations
- Cannot predict the severity of the disease
- No cure is available to prevent the disease so far
- Blood pressure is followed regularly.
- High blood pressure has to be treated with medication.
- Pain in the kidneys is treated with pain medications.
- For severe pain, they use antidepressants.
- If standard methods to treat kidney pain do not work, then removing the fluid in the kidney cysts may be done.
- If the kidneys start to fail, they start:
- restricting protein in the diet
- controlling buildup of acid
- If the Kidneys are not working efficiently they will probably have a kidney transplant
How is autosomal dominant polycystic kidney disease inherited and how often does it occur?
- ADPKD is inherited as an autosomal dominant trait in families.
- It is present at birth in 1 in 400 to 1 in 1,000 babies, and it affects approximately 400,000 people in the United States. ADPKD occurs in individuals and families worldwide and in all races.
- “autosomal dominant” means that if one parent has the disease, there is a 50-percent chance that the disease will pass to a child of either gender.
- In this form, one out of a person's two copies of the gene must be altered in order for the person to develop ADPKD. Most of the time, one parent must have the disease for a child to inherit it. Either the mother or father can pass it along, but new mutations may account for up to one-fifth of new cases.
Sourse: http://www.genome.gov/20019622