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About this sample
About this sample
Words: 910 |
Pages: 2|
5 min read
Published: Mar 1, 2019
Words: 910|Pages: 2|5 min read
Published: Mar 1, 2019
WAGR Syndrome is an uncommon disease that can affect both genders. It is more common for babies to be born with the syndrome, rather than getting diagnosed with the disease later on in life. The babies that are born with WAGR face high risks of being diagnosed with cancer, can develop eye problems, as well as a delay with their mental progress. WAGR is abbreviated for four different types of diseases found in children: Wilms’ tumor, Aniridia, Genitourinary problems and Mental Retardation.
Is there a mutation that causes this disorder? WAGR Syndrome is caused by mutations of a group of genes, that are situated on chromosome 11, and are removed from the chromosome. The deleted genetic material often contains genes that are needed for the baby to develop, meaning that there is now only one copy of the genes, and not two. This type of genetic change often happens during the early development stages of an infant. What are the signs and symptoms of the disorder?
Symptoms of WAGR Syndrome are often found after the birth of a baby. For example, the baby’s kidney enlargement can be discovered through a prenatal ultrasound, eye problems are detected during the newborn period, and so is the genital complications. Babies that are born with WAGR Syndrome can develop more problems as they grow into adults, increasing the chance of their kidneys, eyes, ovaries (for females) and testicles (for boys) to fail.
One half of the people who are diagnosed with WAGR Syndrome get kidney cancer (also known as Wilms’ tumor). Symptoms include blood in the urine, loss of appetite, weight loss, low fevers, losing energy and/or an inflammation of the abdomen. What commonly occurs with Aniridia is that the irises of the baby’s eyes do not grow, which leaves them without a coloured iris. This disease is most common amongst babies who have WAGR Syndrome. Symptoms that can occur as the baby grows up include cataract in the eyes, rapid movements of the eye and loss of vision.
Genital and urine problems (Genitourinary) can sometimes occur when being diagnosed with WAGR Syndrome. If a male has these problems, symptoms that appear can be problems with their testicles, or no growth of that body part. For females, symptoms often include bad ovaries and an abnormal growth of the uterus and vagina. Sometimes, the problems with the genitals can make the gender of a newborn baby unclear. Mental Retardation and a delay in the child’s development are common in WAGR Syndrome. Each person’s mental retardation differs from one another. The severity of mental retardation can range from severe to mild. However, some children who do have WAGR Syndrome, can still have a normal mental development.
Other symptoms that can occur with WAGR Syndrome are:
What are the patterns of heredity (how is it passed on in generations) eg chances of acquiring this disorder.
WAGR Syndrome is autosomal dominant. This means that, for a child to become diagnosed with WAGR Syndrome, one of the parents also has the disease, therefore has one normal gene and one with a deleted chromosome. The children of the parent with the syndrome, will then have a 50% chance of acquiring the syndrome as well. However, in some cases, WAGR Syndrome can be caused by a new mutation, meaning that the removed chromosome can develop in a child for the first time. When the child grows up, this new mutation will be passed on to the future generation.
There are many kinds of treatments to help cure WAGR Syndrome. Treatment is often aimed at specific symptoms that are present in a child. Wilms’ tumor can be treated quite well. If a baby has been diagnosed with WAGR syndrome, then they should be having ultrasounds done on their abdomen straight away, to monitor the kidneys. Ultrasounds need to be done every three months up to the age of 8, because the tumor often grows from the ages of 1-3. Treatment that can be done to remove the failing kidney is surgery, radiation therapy and, in some cases, chemotherapy.
For Aniridia, there is not much that can be done to obtain a coloured iris. The main intention is to keep that person from losing their vision. Some form of drugs and surgery can help if the patient has glaucoma or a cataract. However, the person should never wear contact lenses as it can affect and do damage to the cornea. Young children born with WAGR Syndrome must have routine check-ups to monitor any form of abnormal growth of the ovaries or testicles. Surgery can be done to eliminate any irregular private parts and to stop cancer from evolving in these parts of the body. When such parts are removed, the person undergoing the surgery is provided with hormone replacement treatment. If females have been detected to have irregular ovaries, they have regular ultrasounds done on their pelvic to prevent gonadoblastoma cancer.
If a child develops mental retardation, it is best that the child goes to an Early Intervention Service after the child is born, or when they have been diagnosed. Treatments that can help include vision, physical, occupational and speech therapy. Special Education places are used as well to help the child to reach their highest potential.
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