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Potter Syndrome: Bilateral Renal Agenesis

Definition of Potter Syndrome

Bilateral renal agenesis is a rare congenital malformation characterized by the absence of both kidneys. The absence of fetal urine production causes oligohydramnios and results in the Potter sequence, with pulmonary hypoplasia, characteristic facial features, and limb deformities (Potter, 1965).

Epidemiology:

The incidence of bilateral renal agenesis is approximately 3–15/100 000 births. Boys account for 75 % of affected cases.

Etiology:

The cause is an early disruption of the interaction between the ureteric bud and the metanephric blastema, preventing development of the definitive kidneys. In addition to sporadic cases, genetic causes are likely because 3.5 % of siblings of children with bilateral renal agenesis are also affected.

Signs and Symptoms of Potter Syndrome

• Prenatal: Severe oligohydramnios beginning in the second trimester, nonvisualization of the kidneys, and absence of bladder filling
• Potter facies: Dry, wrinkled skin, low-set ears, a flattened nose, and micrognathia
• Respiratory insufficiency due to pulmonary hypoplasia
• Postnatal anuria
• Intrauterine fetal death, stillbirth, or early neonatal death is the rule without treatment

Diagnosis:

Diagnosis is usually made prenatally by detailed fetal ultrasonography at 18–22 weeks of gestation: marked oligohydramnios, nonvisualization of the kidneys, and absence of bladder filling. Other causes of oligohydramnios, such as lower urinary tract obstruction or severe cystic renal malformations, must be excluded. MRI may be helpful in equivocal cases.

Treatment:

Survival is not possible without prenatal intervention. Following prenatal diagnosis, options include termination of pregnancy or expectant management with palliative care. Experimental approaches, including serial amnioinfusions, peritoneal dialysis, and kidney transplantation, have been described in small series (Miller et al., 2023); however, they are associated with substantial neonatal morbidity.

References

Miller JL, Baschat AA, Rosner M, et al. Neonatal Survival After Serial Amnioinfusions for Bilateral Renal Agenesis: The Renal Anhydramnios Fetal Therapy Trial. JAMA. 2023;330:2096–2105.

Potter 1965 POTTER, E. L.: Bilateral Absence of Ureters and Kidneys: A Report of 50 Cases.
In: Obstet Gynecol
25 (1965), S. 3–12

  Deutsche Version: Bilaterale Nierenagenesie

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