Bilateral renal agenesis

Bilateral Renal Agenesis (BRA) is a rare congenital disorder characterized by the absence of both kidneys at birth. This condition is often fatal and is associated with a range of other anomalies.

Etiology

The exact cause of Bilateral Renal Agenesis is unknown, but it is believed to be a multifactorial condition, involving both genetic and environmental factors. Some studies suggest a link with mutations in the RET proto-oncogene, but this is not yet fully understood.

Pathophysiology

In Bilateral Renal Agenesis, the kidneys fail to develop during the embryonic stage. This results in the absence of renal tissue and the associated structures such as the ureters. The absence of kidneys leads to anuria, resulting in oligohydramnios, which can cause a range of other complications including pulmonary hypoplasia and characteristic facial features known as Potter's sequence.

Clinical Presentation

Infants with Bilateral Renal Agenesis often present with a lack of amniotic fluid (oligohydramnios), leading to a characteristic set of facial features (Potter's sequence), including low-set ears, a broad, flat nose, and a recessed chin. Other symptoms may include pulmonary hypoplasia, leading to respiratory distress, and skeletal deformities.

Diagnosis

Bilateral Renal Agenesis is typically diagnosed prenatally through ultrasound imaging, which shows the absence of kidneys and a low level of amniotic fluid. Postnatal diagnosis can be confirmed through physical examination and imaging studies.

Management and Prognosis

Management of Bilateral Renal Agenesis is largely supportive, as there is currently no cure for the condition. Prognosis is generally poor, with most infants not surviving past the neonatal period due to severe respiratory distress caused by pulmonary hypoplasia.

See Also

• Unilateral Renal Agenesis
• Renal Dysplasia
• Potter's Sequence