WAGR Syndrome is a genetic condition that can affect boys and girls. Babies Born with this disease often have eye problems, and are at high risk for developing certain types of cancer and mental retardation.
W.A.G.R stands for:
(W)ilms' Tumor- Common form of kidney cancer for kids.
(A)niridia-Some or complete absence of the colored part of the eye(the iris).
(G)enitourinary Problems-Testies and ovaries haven't formed or descended.
Mental (R)etardation
Also known as WAGR Complex, Wilms' Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome, Wilms' Tumor-Aniridia-Gonadoblastomar-Mental Retardation Syndrome, Chromosome 11p deletion syndrome, and 11p deletion syndrome.
The cause of this disease is the deletion of a group of genes located on chromosome 11(11p13- refers to specific place in chromosome 11 that is affected). - Corresponds to picture 1
Symptoms
1.Wilms' Tumor-First sign is blood in the urine, low grade fever, loss of appetite, lack of energy, or swelling of the abdomen. (One half of individuals who have WAGR have Wilms' Tumor.) - Corresponds to picture 2
2. Aniridia (cataract-clouding of the lens of the eyes), nystagmus(rapid involuntary movement of the eye), glaucoma (all or partial loss of vision due to the high pressure of fluid in the eye). -Corresponds to picture 3.
3. GU problems- Such as underdeveloped (streak) ovaries, and malformations of the uterus, fallopian tubes or vagina for girls and urinary tract opening somewhere along the shaft of the penis rather than at the tip (hypospadias) or undescended testes (cryptorchidism) for boys. Also both genders may develop a type of cancer called gonadoblastoma, a cancer of the cells that form the testes in males and the ovaries in females.
4. Mental Retardation
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Developmental, behavioral, and/or psychiatric disorders including autism, A.D.D, O.C.D., anxiety disorders, and depression.
6. Obesity and High blood pressure
7. Polyphagia/Hyperphagia (In take of excessive food).
8. Chronic kidney failure after the age of 12.
9.Asthma and Pneumonia and breathing problems during sleep (sleep apnea).
10. Frequent ear, nose, and throat infections as an infant or young child.
11. Crowded or uneven teeth. -Corresponds to picture 4.
12.Problems with muscle tone and strength, usually occurs in infants and children.
13.Seizure disorder(Epilepsy).
14. Inflammation of the pancreas (pancreatitis).
Treated and Lived with
If one of the four main symptoms occur, they treat the first symptom that appears (more than one symptom can occur at a time). For Wilms' Tumor there is radiation(picture 6) and chemotherapy(picture 5), also surgery.
For Aniridia there is surgery and drugs for cataracts and glaucoma; also contact lens should be avoided so cornea is not damaged.
For GU problems there are surgeries; girls may have a MRI (magnetic resonance imaging) or Pelvic ultrasounds. Both genders may go through surgery to remove abnormal gonads so there are less chances of cancer.
Children with mental retardation may go into a program called Early Intervention Services, which would give them treatment (vision therapy, physical, occupational and speech therapies).
Kidney failure can occure as well due to high blood pressure and high cholesterol and leakage of protein from blood to the urine (called proteinuria). People with WAGR should be checked for urination problems and high blood pressure. These problems are treated with medications called "ACE inhibitors" or "ARBs." Some people with WAGR syndrome and renal failure are treated with dialysis or kidney transplant.
There is research for this disease, but each research an individual part of WAGR like the National Wilms' Tumor Study, March of Dimes Birth Defect Foundation, and the National Eye Institue (NEI).
Some support groups are Candlelighters Childhood Cancer Foundation, National Wilms' Tumor Study and Aniridia Network.
Links
http://ghr.nlm.nih.gov/gene/PAX6
http://www.umm.edu/imagepages/9056.htm
http://optometrist.com.au/aniridia-disorder-eyes-iris/
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