Q60.1 Renal agenesis, bilateral

Name of the Condition

• Renal agenesis, bilateral

Summary

Bilateral renal agenesis is a congenital condition characterized by the complete absence of both kidneys. This defect occurs during fetal development and is incompatible with life due to the inability to produce urine, leading to severe oligohydramnios (low amniotic fluid) and subsequent pulmonary hypoplasia (underdeveloped lungs). The condition is typically diagnosed prenatally and results in fetal demise or neonatal death.

Causes

The exact cause of bilateral renal agenesis is often not identifiable, but disruptions in normal kidney development during embryogenesis are implicated. Genetic factors, such as mutations in genes involved in renal formation (e.g., those regulating ureteric bud induction), and environmental influences during pregnancy may contribute. The condition may also occur as part of a genetic syndrome, though many cases are isolated.

Risk Factors

• Family history of congenital kidney defects.
• Genetic syndromes associated with renal anomalies (e.g., Potter sequence).
• Maternal exposure to certain teratogens or medications during pregnancy.

Symptoms

• Severe oligohydramnios detected prenatally.
• Pulmonary hypoplasia leading to respiratory failure.
• Physical features of Potter sequence (e.g., flattened facies, limb deformities) due to oligohydramnios.

Diagnosis

Bilateral renal agenesis is typically diagnosed prenatally using ultrasound, which may show absent renal structures and severe oligohydramnios. Postnatal confirmation involves physical examination and imaging (e.g., renal ultrasound) to confirm the absence of both kidneys. Prenatal screening for associated anomalies (e.g., chromosomal testing) may also be performed.

Treatment Options

No curative treatment exists for bilateral renal agenesis, as it is incompatible with life. Management focuses on supportive care for the fetus or newborn, including addressing respiratory distress and providing palliative care. In some cases, termination of pregnancy may be considered based on prenatal diagnosis and parental decision-making.

Prognosis and Follow-Up

Bilateral renal agenesis is uniformly fatal, with most affected fetuses or newborns not surviving beyond the perinatal period due to pulmonary hypoplasia. Follow-up for families may involve genetic counseling to discuss recurrence risks in future pregnancies.

Complications

• Pulmonary hypoplasia and respiratory failure.
• Severe oligohydramnios leading to fetal compression syndromes (e.g., Potter sequence).
• Incompatible with life, resulting in fetal demise or neonatal death.

Lifestyle & Prevention

Prevention is not possible for sporadic cases, but genetic counseling may be recommended for families with a history of congenital kidney defects. Prenatal care, including avoiding teratogens and maintaining good maternal health, may reduce risk in some cases.

When to Seek Professional Help

Prenatal detection of severe oligohydramnios or absent renal structures warrants immediate consultation with a maternal-fetal medicine specialist. Postnatal confirmation of bilateral renal agenesis requires urgent neonatal intensive care and palliative care support.

Tips for Medical Coders

Document the prenatal or postnatal diagnosis, including imaging findings (e.g., ultrasound) and associated anomalies (e.g., Potter sequence). Ensure the code Q60.1 is used for bilateral renal agenesis, with no other renal structures present. Note that this condition is incompatible with life and may require additional coding for related complications (e.g., pulmonary hypoplasia) if documented.