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WAGR syndrome stands for Wilms’ tumor, aniridia, genitourinary anomalies, and mental retardation, which is now called intellectual disability, and this is a genetic disorder that’s caused when a part of chromosome 11 is missing, or deleted.
Not everyone with WAGR has all of the symptoms, for example only about a half of the individuals have Wilms’ tumor.
The most specific feature of WAGR syndrome is aniridia, which is the complete or partial absence of the iris, the colored part of the eye. And this is an easily noticeable feature, and it’s present at birth, so it’s usually the first thing to raise suspicion of WAGR syndrome.
Now, a normal iris controls how much light enters the eye, and it constricts the pupil when there’s a lot of light around to keep the vision sharp. With aniridia, too much light gets into the eye, which leads to blurry vision and photophobia, which is discomfort when the eyes are exposed to light.
Wilms’ tumor, also called nephroblastoma, is generally a malignant kidney tumor that affects children.
Wilms’ tumor’s composed of metanephric blastema, which is a cell type that’s seen in the developing kidney, stromal cells which are part of the connective tissue, and epithelial cells which self-organize into primitive glomeruli and tubules.
Now, that hypertension is a result of increased renin secretion; which either comes from the tumor itself or from healthy kidney tissue that secretes renin because it’s physically compressed by the tumor.
WAGR syndrome is a rare genetic disorder caused by a deletion or mutation of certain genes on chromosome 11. It is characterized by four main features: Wilms tumor, aniridia, genitourinary abnormalities, and intellectual disability. People with WAGR syndrome can also present with cataracts, glaucoma, and nystagmus. The severity and range of symptoms can vary widely among affected individuals. Treatment usually involves a multidisciplinary approach, including surgical intervention for Wilms tumor, management of developmental and intellectual issues, and regular monitoring for potential health issues.
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