Denys-Drash syndrome
Meaning of Denys-Drash syndrome: Denys-Drash syndrome is a rare genetic disorder combining early kidney failure, abnormal sexual development, and a high risk of Wilms tumor.
Definition of Denys-Drash syndrome
A mutation affecting the WT1 gene, a gene important for normal kidney and reproductive organ development, causes Denys-Drash syndrome, a rare genetic disorder. The condition typically presents with a combination of features, including progressive kidney failure that begins early in life, abnormal development of the internal or external sexual organs, and a high likelihood of developing Wilms tumor, a type of kidney cancer that occurs mainly in young children.
Not every affected child develops all three features, and the severity and combination of findings can vary somewhat between individuals with the condition. Children with Denys-Drash syndrome are also monitored for other cancers beyond Wilms tumor, since the same underlying genetic change is associated with an increased risk across more than one tumor type.
Because of the kidney and cancer risks involved, children diagnosed with Denys-Drash syndrome typically require ongoing monitoring from specialists in kidney disease, genetics, and cancer care.
Used in a sentence
Genetic testing confirmed Denys-Drash syndrome after the child was found to have early kidney failure and a Wilms tumor.
Good to know
Not every child with Denys-Drash syndrome develops all three characteristic features, so the combination and severity of kidney, reproductive, and tumor related findings can vary considerably between affected individuals.