Short answer · Medically reviewed summary · Last updated: 2026-05-08
Bilateral Renal Agenesis, also known as Potter sequence, is a rare and severe congenital condition characterized by the complete absence of both kidneys at birth. The primary clinical symptoms result from the lack of fetal urine production, leading to severe oligohydramnios (low amniotic fluid), pulmonary hypoplasia (underdeveloped lungs), and distinct facial features. What are the primary symptoms of Bilateral Renal Agenesis? The clinical presentation of Bilateral Renal Agenesis is dominated by the consequences of absent kidney function in utero.
1 people with Bilateral Renal Agenesis have shared their first-person experience on this question at DiseaseMaps.
Which are the symptoms of Bilateral Renal Agenesis?
Symptoms of Bilateral Renal Agenesis reported by real patients, from the most common to the most limiting, plus a medically reviewed summary with sources.
Bilateral Renal Agenesis, also known as Potter sequence, is a rare and severe congenital condition characterized by the complete absence of both kidneys at birth. The primary clinical symptoms result from the lack of fetal urine production, leading to severe oligohydramnios (low amniotic fluid), pulmonary hypoplasia (underdeveloped lungs), and distinct facial features.
What are the primary symptoms of Bilateral Renal Agenesis?
The clinical presentation of Bilateral Renal Agenesis is dominated by the consequences of absent kidney function in utero. Because fetal urine is the main component of amniotic fluid, its absence prevents the lungs from developing properly. Key clinical manifestations include:
- Pulmonary Hypoplasia: Severe respiratory distress immediately following birth due to underdeveloped lungs.
- Potter Facies: Characteristic facial features including low-set ears, a recessed chin, prominent epicanthic folds, and a flattened nose caused by pressure from the uterine wall.
- Limb Abnormalities: Clubbed feet (talipes equinovarus) or other skeletal deformities resulting from restricted movement in a low-fluid environment.
How does the severity of Bilateral Renal Agenesis vary?
While Bilateral Renal Agenesis is uniformly lethal due to the critical nature of pulmonary hypoplasia, the severity of associated physical anomalies can vary. Some infants may present with additional malformations involving the cardiovascular, gastrointestinal, or central nervous systems, which are collectively referred to as VACTERL association in some cases. Within the DiseaseMaps.org community, 19 members have shared their experiences, highlighting the emotional and physical complexities faced by families navigating this diagnosis.
When should families seek immediate medical evaluation?
In cases of suspected Bilateral Renal Agenesis, medical intervention must be immediate. If prenatal ultrasound reveals the absence of kidneys or severe oligohydramnios, parents should consult with a perinatologist or a neonatal intensive care unit (NICU) team. Because Bilateral Renal Agenesis leads to life-threatening respiratory failure at birth, specialized palliative care or intensive respiratory support must be discussed with a multidisciplinary team of neonatologists and pediatric nephrologists.
Next steps
- Consult with a board-certified genetic counselor to discuss the recurrence risk for future pregnancies.
- Request a referral to a pediatric nephrology center for comprehensive diagnostic imaging.
- Connect with the Bilateral Renal Agenesis community at DiseaseMaps.org to share experiences with others who have navigated this diagnosis.
- Seek support from bereavement or specialized counseling services if you are facing this difficult prognosis.
Medical disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment from a qualified healthcare provider.
References
- NIH Genetic and Rare Diseases Information Center (GARD): Bilateral Renal Agenesis
- Orphanet: Renal Agenesis, Bilateral
- OMIM (Online Mendelian Inheritance in Man): Renal Agenesis, Bilateral
Premature labor, breech delivery and a disproportionately low birthweight are often associated with bilateral renal agenesis. The baby may also have multiple malformations including in females the absence of a uterus and upper vagina, or in males an absence of seminal vesicles and spermatic duct. Gastro-intestinal malformations such as the absence of a rectum, esophagus and duodenum may also occur. Symptoms may further include the presence of only a single umbilical artery, and major deformities of the lower part of the body and the lower limbs.
Posted Jul 30, 2018 by Alicia 1200
