Potter Syndrome

At a glance

A possible genetic disorder characterized by oligohydramnios secondary to renal diseases (bilateral renal agenesis, obstructive uropathy, autosomal recessive polycystic kidney disease, medullary dysplastic kidney, and renal hypoplasia). Clinical features include Potter facies (flattened nose, recessed chin), pulmonary hypoplasia, skeletal anomalies, and congenital heart defects.

Synonyms

Oligohydramnios Sequence; Potter Sequence. Potter’s disease; Potter facies.

History

Named after Edith L. Potter, an American Physician, who described a case series of bilateral renal aplasia in 20 patients with characteristic appearances of the face and lungs in 1946.

Incidence

Renal agenesis occurs in 1:3,000 live births and is responsible for 20% of Potter cases. Males have an increased incidence.

Genetic inheritance

Unclear. Different reports suggest an autosomal recessive, autosomal dominant, or X-linked recessive. Male:female ratio of 2.5:1.

Pathophysiology

The possible mechanism of renal agenesis or hypoplasia may be failure of the ureteric bud formation, failure of the bud to reach the metanephric blastema, or failure of the bud and the metanephric blastema to influence each other. The ensuing decreased or absent intrauterine urine production results in oligo- or anhydramnios. This results in compression of the fetus and the typical anomalies found. Other causes of oligohydramnios (obstructive uropathy, polycystic kidneys, chronic leakage of amniotic fluid) produce a similar spectrum of anomalies.

Diagnosis

Based on ultrasonographic evidence of renal agenesis in addition to the typical clinical picture. Prenatal diagnosis of renal agenesis or hypoplasia is possible after 18 weeks of gestation.

Clinical aspects

Potter facies: mild hypertelorism, prominent inner canthus, flattened nose, mild micrognathia, large low-set ears. Lungs: severe pulmonary hypoplasia similar to that of congenital diaphragmatic hernia. Skeletal: malformation of spine, bowing of legs, clubfeet, large hands. Cardiovascular: Ventricular septal defects, tetralogy of Fallot, patent ductus arteriosus, endocardial cushion defect. Prognosis is very poor. Death usually shortly after birth as a consequence of pulmonary hypoplasia.

Precautions before anesthesia

Unlikely to present for surgery in view of poor prognosis. Assess pulmonary status. Evaluate renal function: absent in case of renal agenesis or hypoplasia, variable in other causes of oligohydramnios.

Anesthetic considerations

Severe pulmonary hypoplasia requiring special techniques of mechanical ventilation. Endotracheal intubation may be difficult because of micrognathia. Renal agenesis may affect management. The association of cardiovascular malformations will influence the anesthetic management.

Pharmacological implications

According to renal function.

Other condition to be considered

• ☞Polycystic Kidney Disease (PKD): Genetic disorder defined by the pathological development of fluid-filled cysts throughout the kidneys leading to organ enlargement and ...