Bilateral renal agenesis dominant type

Bilateral Renal Agenesis Dominant Type (BRADT) is a rare genetic disorder characterized by the absence of both kidneys at birth. This condition is typically fatal in the prenatal or immediate postnatal period due to pulmonary hypoplasia and severe oligohydramnios.

Etiology

BRADT is caused by mutations in the RET gene, which is involved in the development of the kidneys and urinary system. The RET gene provides instructions for producing a protein that is involved in signaling within cells. Mutations in this gene disrupt the normal development of the kidneys and urinary system, leading to the absence of both kidneys at birth.

Clinical Presentation

Infants with BRADT typically present with severe oligohydramnios, which can lead to Potter sequence, a group of physical abnormalities caused by an insufficient amount of amniotic fluid. These abnormalities can include facial deformities, limb deformities, and pulmonary hypoplasia. Due to the severity of these complications, most infants with BRADT do not survive past the immediate postnatal period.

Diagnosis

Diagnosis of BRADT is typically made prenatally through ultrasound imaging, which can detect the absence of kidneys. Genetic testing can also be performed to identify mutations in the RET gene.

Management and Prognosis

There is currently no cure for BRADT, and management is typically supportive. The prognosis for infants with BRADT is poor, as most do not survive past the immediate postnatal period due to severe pulmonary hypoplasia and oligohydramnios.

See Also

• Renal agenesis
• Potter sequence
• RET (gene)