How do I know if I have Bilateral Renal Agenesis?

Bilateral Renal Agenesis (BRA) is a severe, life-limiting congenital condition characterized by the complete absence of both kidneys at birth. Because Bilateral Renal Agenesis is incompatible with long-term survival due to the lack of fetal urine production, it is typically diagnosed during prenatal ultrasound screenings or immediately upon birth.

What are the clinical indicators of Bilateral Renal Agenesis?

Bilateral Renal Agenesis occurs in approximately 1 in 4,000 to 1 in 10,000 births. The primary clinical indicator is the absence of amniotic fluid (oligohydramnios or anhydramnios) during pregnancy, as fetal kidneys are essential for producing fluid. In neonates, the condition is often associated with Potter sequence, which includes characteristic facial features, limb deformities, and pulmonary hypoplasia resulting from the lack of amniotic fluid.

How is Bilateral Renal Agenesis diagnosed?

Diagnosis is almost exclusively performed through medical imaging. If you or a loved one are concerned about renal health, it is important to understand that Bilateral Renal Agenesis is not a condition that develops in adulthood; it is present from conception. Standard diagnostic pathways include:

• Prenatal Ultrasound: The most common method to identify the absence of renal tissue in the fetus.


• Postnatal Imaging: If suspected at birth, an abdominal ultrasound, CT scan, or MRI is used to confirm the absence of both kidneys.


• Genetic Counseling: Testing may be recommended to determine if the Bilateral Renal Agenesis is part of a broader genetic syndrome.

When should you seek medical evaluation?

If you are an adult concerned about your renal health, it is physically impossible to have Bilateral Renal Agenesis, as the condition requires immediate medical intervention at birth. However, if you have a family history of congenital kidney anomalies, you should consult a nephrologist to discuss screening for other conditions, such as Unilateral Renal Agenesis or multicystic dysplastic kidney, which are distinct from Bilateral Renal Agenesis.

Next steps

• Consult a genetic counselor if there is a family history of renal agenesis.


• Join the 19 members on DiseaseMaps.org who share experiences with Bilateral Renal Agenesis to find community support.


• Request a referral to a pediatric nephrologist if you are a parent seeking clarity on a recent prenatal diagnosis.

Medical disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment.

References

• NIH Genetic and Rare Diseases Information Center (GARD): Bilateral Renal Agenesis.


• Orphanet: Renal Agenesis.


• OMIM (Online Mendelian Inheritance in Man): Renal Agenesis; RAG.