Denys–Drash syndrome

Denys–Drash syndrome (DDS) is a rare genetic disorder characterized by a combination of kidney disease, male pseudohermaphroditism, and an increased risk of developing Wilms' tumor. The syndrome is named after Dr. Paul Denys and Dr. Allen Drash, who first described the condition.

Clinical Features

Denys–Drash syndrome typically presents in early childhood. The main clinical features include:

• Nephropathy: Progressive kidney disease, often leading to renal failure.
• Male pseudohermaphroditism: Ambiguous genitalia in genetic males (46,XY).
• Increased risk of Wilms' tumor: A type of kidney cancer that primarily affects children.

Genetics

Denys–Drash syndrome is caused by mutations in the WT1 gene located on chromosome 11p13. The WT1 gene is crucial for the normal development of the kidneys and gonads. Mutations in this gene disrupt its function, leading to the clinical manifestations of DDS.

Diagnosis

The diagnosis of Denys–Drash syndrome is based on clinical findings, genetic testing, and histological examination of kidney tissue. Key diagnostic criteria include:

• Presence of nephropathy with diffuse mesangial sclerosis.
• Ambiguous genitalia in genetic males.
• Identification of a WT1 mutation.

Treatment

Management of Denys–Drash syndrome involves a multidisciplinary approach, including:

• Regular monitoring and management of kidney function.
• Surgical intervention for ambiguous genitalia.
• Surveillance for the development of Wilms' tumor, including regular abdominal ultrasounds.

Prognosis

The prognosis for individuals with Denys–Drash syndrome varies. Early diagnosis and management of kidney disease and Wilms' tumor are crucial for improving outcomes. However, many patients progress to end-stage renal disease and require dialysis or kidney transplantation.

Related Pages

• Wilms' tumor
• Nephropathy
• WT1 gene
• Renal failure
• Dialysis
• Kidney transplantation

See Also

• Frasier syndrome
• Beckwith-Wiedemann syndrome
• Congenital nephrotic syndrome