Autosomal Dominant Diseases

Autosomal Dominant Diseases
AD disorders are those in which a patient manifests clinical symptoms when only a single copy
of the mutant gene is present (i.e., the patient is heterozygous for the mutation).
Introduction
Autosomal dominance is a pattern of inheritance characteristic of some genetic diseases.
"Autosomal" means that the gene in question is located on one of the numbered, or non-sex,
chromosomes. "Dominant" means that a single copy of the disease-associated mutation is enough
to cause the disease. This is in contrast to a recessive disorder, where two copies of the mutation
are needed to cause the disease. Huntington's disease is a common example of an autosomal
dominant genetic disorder.
Inheritance of AD disorders follows several general principle
 Each affected person has an affected parent.

 Affected persons, on average, have equal numbers of affected and unaffected
children.
 Normal children of affected parents have only unaffected children.
 Males and females are affected in equal proportions.
 Each sex is equally likely to transmit the disorder to male and female children.
 Vertical transmission of the disorder occurs through successive generations.
These general rules of AD inheritance are based on the assumption, not always valid, that no new
mutations occur. In fact, in some disorders the incidence of new mutations is quite high. For
example, up to 50% of the cases of neurofibromatosis result from new mutations
This disease can also occur as a new condition in a child when neither parent has the abnormal
gene. A parent with an autosomal dominant condition has a 50% chance of having a child with
the condition. This is true for each pregnancy.
It means that each child's risk for the disease does not depend on whether their sibling has the
disease.
Children who do not inherit the abnormal gene will not develop or pass on the disease.If
someone is diagnosed with an autosomal dominant disease, their parents should also be tested for
the abnormal gene.Examples of autosomal dominant disorders include Marfan
syndrome and neurofibromatosis type 1.
Following are some of the main autosomal dominant inheritance disorders;
Polycystic Kidneys
Polycystic kidney disease (PKD) is an inherited disorder in which clusters of cysts develop
primarily within your kidneys, causing your kidneys to enlarge and lose function over time.
Cysts are noncancerous round sacs containing fluid. The cysts vary in size, and they can grow
very large. Having many cysts or large cysts can damage your kidneys.
Polycystic kidney disease can also cause cysts to develop in your liver and elsewhere in your
body. The disease can cause serious complications, including high blood pressure and kidney
failure.
PKD affects people of all ages, races, and ethnicities worldwide. The
disorder occurs equally in women and men.
What causes PKD?
A gene mutation, or defect, causes PKD. In most PKD cases, a child

got the gene mutation from a parent. In a small number of PKD
cases, the gene mutation developed on its own, without either parent
carrying a copy of the mutated gene. This type of mutation is called “spontaneous.”
Polycystic kidney disease symptoms can include:
 High blood pressure
 Back or side pain
 Blood in your urine
 A feeling of fullness in your abdomen

 Increased size of your abdomen due to enlarged kidneys
 Headaches
 Kidney stones
 Kidney failure
 Urinary tract or kidney infections
Treatment
At present, there is no cure for PKD. However, a lot of research is being done. Recent studies
suggest that drinking plain water throughout the day and avoiding caffeine in beverages can slow
the growth of cysts. Research is also helping us understand the genetic basis of PKD.
Studies also suggest that some treatments may slow the rate of kidney disease in PKD, but
further research is needed before these treatments can be used in patients. In the meantime, many
supportive treatments can be done to control symptoms, help slow the growth of cysts, and help
prevent or slow down the loss of kidney function in people with PKD. These include:
 careful control of blood pressure

 prompt treatment with antibiotics of a bladder or kidney infection
 lots of fluid when blood in the urine is first noted
 medication to control pain (talk to your doctor about which over-the-counter medicines
are safe to take if you have kidney disease)
 a healthy lifestyle with regard to smoking cessation, exercise, weight control and reduced
salt intake
 drinking lots of plain water throughout the day
 avoiding caffeine in all beverages
In April 2018, the FDA approved a new drug called tolvaptan for the treatment of autosomal
dominant polycystic kidney disease (ADPKD). The drug can be used to help slow kidney
function decline in adults at risk for this type of PKD.

Autosomal Dominant Diseases

Uploaded by

Copyright:

Available Formats

Autosomal Dominant Diseases

Uploaded by

Document Information

Copyright

Available Formats

Share this document

Share or Embed Document

Sharing Options

Did you find this document useful?

Is this content inappropriate?

Copyright:

Available Formats

Autosomal Dominant Diseases

Uploaded by

Copyright:

Available Formats

Autosomal Dominant Diseases

 Each affected person has an affected parent.

Following are some of the main autosomal dominant inheritance disorders;

What causes PKD?

A gene mutation, or defect, causes PKD. In most PKD cases, a child

Polycystic kidney disease symptoms can include:

 High blood pressure

 Back or side pain

 Blood in your urine

 A feeling of fullness in your abdomen

 Urinary tract or kidney infections

 careful control of blood pressure

You might also like