What causes Denys-Drash Syndrome?

Causes. DDS is a genetic disorder caused by mutations in the Wilms tumor suppressor gene, WT1. The vast majority of the mutations occur in one of two areas of the gene located on chromosome 11, called exon 8 or exon 9.

What chromosome is Wilms tumor genes located on?

Doctors have found that some Wilms tumors have changes in specific genes: A small number of Wilms tumors have changes in or loss of the WT1 or WT2 genes, which are tumor suppressor genes found on chromosome 11. Changes in these genes and some other genes on chromosome 11 can lead to overgrowth of certain body tissues.

How common is Denys-Drash Syndrome?

Frequency. The prevalence of Denys-Drash syndrome is unknown; at least 150 affected individuals have been reported in the scientific literature.

What syndrome is Wilms tumor?

The WT1-related Wilms tumor (WT) syndromes are a group of hereditary disorders caused by alterations in a gene known as WT1. This group of disorders includes: WAGR (Wilms tumor-Aniridia-Genitourinary malformation-Retardation) syndrome. Denys-Drash syndrome (DDS)

What is the difference between Adpkd and Arpkd?

ADPKD often causes cysts to develop only in the kidneys, while ARPKD often causes cysts to develop in the liver and the kidneys. People with either type may also develop cysts in their pancreas, spleen, large bowel, or ovaries.

What is the pathophysiology of Wilms tumor?

Wilms tumor is an embryonal cancer of the kidney composed of blastemal, stromal, and epithelial elements. Genetic abnormalities have been implicated in the pathogenesis, but familial inheritance accounts for only 1 to 2% of cases. Diagnosis is by ultrasonography, abdominal CT, or MRI.

What does Wilms tumor effect?

Some affected children have abdominal pain, fever, a low number of red blood cells (anemia ), blood in the urine (hematuria), or high blood pressure (hypertension). Additional signs of Wilms tumor can include loss of appetite, weight loss, nausea, vomiting, and tiredness (lethargy).

What is PKD1 and PKD2?

The PKD1 and PKD2 genes encode the proteins polycystin-1 and polycystin-2, respectively. These two proteins interact to regulate cells in the kidneys and liver, are a part of the process to form tubular structures, and influence growth and fluid secretion function.