Wilms Tumor-Aniridia Syndrome

Below you will find more information about Wilms Tumor-Aniridia Syndrome from Medigest. If you believe that you are suffering from any of the symptoms of Wilms Tumor-Aniridia Syndrome it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Wilms Tumor-Aniridia Syndrome and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Wilms Tumor-Aniridia Syndrome comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

Definition

Wilms tumor-aniridia syndrome otherwise known as the WAGR complex, aniridia-Wilms tumor syndrome, is a genetic disorder which affect children and made them to developed Wilms tumor, Aniridi, Genitourinary disorders and mental retardation. (Fischbach BV, Trout KL, Lewis J, Luis CA, Sika M (2005). "WAGR syndrome: a clinical review of 54 cases". Pediatrics 116 (4): 984-8).

Diagnosis

Diagnosis includes physical examination as in the case of genital anomalies, infants affected by the syndrome especially the aniridia may be diagnose through physical examination Chromosomal analysis however, is strongly advice to confirm the syndrome.

Treatment

Treatment includes surgical removal of the tumor and the medication as prescribed by ophthalmologists in case of symptoms affecting the eye.

Symptoms and Signs

Symptoms includes the presence of the tumor of the kidney, absence of the colored part of the eye or the Aniridia, genitourinary anomalies like tumors that appears in the gonads and mental disorders. It may also includes cataracts and ptosis.

Causes

Wilms tumor-aniridia syndrome is said to be caused by the mutation on the 11th chromosome in the 11p13 region, includign the PAX6 ocular development gene and the Wilms tumor gene. Mutations in the PAX6 gene have recently been shown to not only cause abnormalities but also problems in the brain and pancreas (Yasuda T, Kajimoto Y, Fujitani Y, Watada H, Yamamoto S, Watarai T, Umayahara Y, Matsuhisa M, Gorogawa S, Kuwayama Y, Tano Y, Yamasaki Y, Hori M (2002). "PAX6 mutation as a genetic factor common to aniridia and glucose intolerance". Diabetes 51 (1): 224-30).

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