WAGR
From Kidney Cancer Resource
Contents |
Overview
Although it may be more relaxing to think in terms of WAGR being the acronym for World Amateur Golf Ranking in the context of the Challenges of Urological cancers we need to consider:
WAGR Syndrome is a very rare disorder. Physicians are generally not familiar with this condition, or with the features and complications of it. People with WAGR syndrome benefit greatly when family caregivers, medical professionals, teachers and therapists learn as much as possible about the disorder, and become active partners in their care. “WAGR” is an acronym. The letters stand for the most common features of this disorder.
A-Aniridia
G-Genital and/or urinary tract abnormalities
R-mental retardation/developmental disabilities
People with WAGR Syndrome have many things in common, but they are also individuals.
Details
It is important to remember that a given individual with WAGR syndrome may or may not have or develop all of the conditions listed below.
Causes
WAGR syndrome is caused by a mutation on chromosome 11 in the 11p13 region (hence it is also sometimes called 11p Syndrome). Specifically, several genes in this area are deleted, including the PAX6 ocular development gene and the Wilms' tumour gene (WT1).
Abnormalities in WT1 may also cause genitourinary anomalies.
Mutations in the PAX6 gene have recently been shown to not only cause ocular abnormalities, but also problems in the brain and pancreas.
Wilms' tumour
Wilm’s tumor is a type of cancer of the kidney. About fifty percent of children with WAGR- syndrome will develop this tumor, usually by the age of three. At this time, it is not possible to predict which children with WAGR syndrome will develop Wilm’s tumor, so frequent ultrasounds and other tests are necessary. If diagnosed early, the cure rate for Wilms' tumor is very high. The risk for Wilms' tumor decreases as the child gets older, and the frequency of the tests can be decreased. It is important to be aware that a few cases of Wilms' tumor have been reported as late as age 25, though, so some monitoring for this cancer should continue throughout life.
For more data on WAGR & Wilms Tumour Click Here
Aniridia
For most people with WAGR syndrome, sporadic Aniridia is the first symptom that is noted, usually at birth or soon after. In rare cases, it is possible to have WAGR syndrome without aniridia. The word Aniridia means, "no iris." The iris is the colored part of the eye. Most people with Aniridia do have a small amount of iris tissue, but it may only be visible to an eye doctor. Average visual acuity in people with Aniridia is about 20/100 to 20/200. This is often enough vision to read large print (at close range) Since the iris controls the amount of light entering the eye, most people with Aniridia are very sensitive to light, particularly sunlight. Wearing sunglasses and a hat when outdoors is usually very helpful. Low vision or complete blindness is not common in Aniridia, but may occur because of complications like glaucoma, cataracts, or conditions such as “Aniridic Keratopathy.” It is very important for people with Aniridia to be seen regularly by an ophthalmologist (a physician who specializes in the care of the eye) There is no cure for Aniridia. Research is currently underway on an “artificial iris,” but these studies are in preliminary stages.
Genito-Urinary Abnormalities/Gonadoblastoma
Boys with WAGR syndrome are often born with genital abnormalities such as undescended testicles and hypospadias. These abnormalities usually require surgical repair. Girls with WAGR syndrome may have normal-appearing external genitals, but may have internal abnormalities of the vagina, uterus, and/or ovaries. Boys and girls with WAGR syndrome are at risk for a type of cancer of the gonads (the testes or the ovaries) This is called Gonadoblastoma. In boys, the risk is decreased by surgery to bring undescended testicles down into the scrotum. In girls, abnormal ovaries may increase the risk of Gonadoblastoma, and should be removed or carefully monitored.
Mental Retardation
Also called cognitive impairment or developmental delay. There is great variability in the intellectual abilities of people with WAGR Syndrome. Most have an IQ that falls within the mild to moderate range of mental retardation. A small number of people with WAGR Syndrome are profoundly impaired, but there are some who have an “average” or normal IQ. It is impossible to predict a child’s intellectual capacity in the first years of life, so early and intensive educational intervention is recommended for all children with WAGR syndrome.
Articles
UroToday (KC) 10-Jul-08
- Molecular Evidence of the Independent Origin of Multiple Wilms Tumors in a Case of WAGR
References
- International WAGR Syndrome Association Click Here
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