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WAGR SYNDROME        

Cancer, Mental Health, Psychological Disorders / By

WAGR SYNDROME   

WAGR syndrome is a rare genetic disorder that affects many body parts.

  • Children born with WAGR syndrome are predisposed to develop Wilms’ tumor (the most common form of kidney cancer in children), Aniridia (some or complete absence of the colored part of the eyes, the iris), Genitourinary anomalies, and Mental R
  • Most of the people that have WAGR syndrome have two or more of this conditions.
  • WAGR syndrome affects both males and females.
  • The prevalence of the condition ranges from 1 to 500,000 to 1million individuals.
  • When WAGR syndrome results in childhood-onset obesity, it is referred to as WAGRO syndrome.

CAUSES

WAGR syndrome is caused by a deletion in a group of genes located on chromosome 11. The size of the deletion varies among individuals.

Most cases of WAGR are not inherited but result as a random event that occurs during the formation of eggs or sperm, or in early fetal development.

WAGR is sometimes referred to as a contiguous gene deletion syndrome because it results in the duplication or deletion of several genes lying in close proximity to one another on the chromosome.

Specifically, severe genes in this area are deleted including the PAX6 and the WT1. The PAX6 can affect ocular development, so experts believe that the loss of the gene is responsible for the eye defect associated with the condition. The PAX6 can also cause a problem in the brain and pancreas.

Mutation in the WT1 gene is likely to be responsible for Wilms’ tumor and the genitourinary abnormalities as seen in the condition.

The loss of the BNDF gene is responsible for the WAGRO syndrome. The BNDF gene produces a protein that is thought to be responsible for the management of drinking, eating, and body weight.

SYMPTOMS

Aniridia, some or complete absence of the colored part of the eye can result in

  • Increased sensitivity to light (Photophobia)
  • Reduction in the sharpness of vision (visual acuity)
  • Involuntary eye movement
  • Clouding of the lens of the eyes (cataract)
  • Increased pressure in the eye (glaucoma)

The common genitourinary anomalies include:

  • undescended testes in male
  • heart shaped uterus in females which makes it hard to carry a pregnancy to term
  • Streak ovaries, which may increase the risk of gonadoblastoma.

Mental retardation or intellectual disability may include:

  • Difficulty learning, processing and properly responding to information
  • Autism
  • Behavioral problems such as depression, anxiety, attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder etc.

Wilms tumor, a rare form of cancer which is prevalent in children but can also be sometimes seen in adults.

Other symptoms are:

  • Childhood-onset obesity
  • Inflammation of the pancreas
  • Kidney failure

DIAGNOSIS AND TREATMENT

To make a diagnosis, genetic testing is carried out to look for the deleted area on chromosome 11. A genetic test called chromosome analysis or karyotype may be carried out for this purpose.

A more specific test called the fluorescent in situ hybridization (FISH) is carried out to look for deletion of a specific gene on chromosome 11.

If abnormal ovaries are present, routine pelvic ultrasounds or MRI to watch the development of gonadoblastoma may be needed

TREATMENT

Treatment options depend on the specific symptoms present in the individual.

Treatment options include:

  • Vision therapy
  • Medications and surgery for cataract and glaucoma.
  • Radiation, chemotherapy, or surgical procedures to remove the kidney in Wilms tumor.
  • Surgery may be done for undescended testes
  • Medications called ACE inhibitors for kidney or renal failures
  • Physical, occupational, and speech therapies
  • Surgery to remove abnormal gonads or to prevent gonadoblastoma