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Potter syndrome


Definition

Potter syndrome and Potter phenotype is a complex of findings associated with renal failure that develops before an infant is born, and with a lack of amniotic fluid (oligohydramnios).

Causes, incidence, and risk factors

Potter phenotype describes a typical appearance that, in the newborn, is determined by the absence of amniotic fluid ( oligohydramnios ). In the absence of amniotic fluid the infant is not cushioned from the walls of the uterus. The pressure of the uterine wall causes a typical facial appearance (Potter's facies): widely separated eyes with epicanthal folds , broad nasal bridge , low set ears and receding chin . In addition, because of limited intrauterine space, the limbs may be abnormal or held in abnormal positions or contractures . Oligohydramnios also stops development of the lungs (hypoplastic lungs) so that at birth the lungs do not function properly.

In Potter syndrome the primary defect is renal failure that occurs before the baby is born, either from failure of the kidneys to develop (bilateral renal agenesis) or from other diseases of the kidney which cause them to fail. The kidneys normally produce the amniotic fluid (as urine) and it is the absence of amniotic fluid that causes the typical appearance of Potter syndrome.

Symptoms

  • Potter facies (described above)
  • absence of urine output
  • respiratory distress

Signs and tests

  • stiff lungs during resuscitation effort (require high pressure for ventilation)
  • Potter phenotype
  • oligohydramnios
  • urogenital abnormalities
Tests:
  • fetal ultrasound (mother) demonstrating:
    • oligohydramnios
    • absence of fetal kidneys or severely abnormal kidneys
  • X-ray of abdomen (newborn)
  • X-ray of the lung(s) (newborn)
  • blood gases

Treatment

Resuscitation at delivery may be attempted pending the diagnosis. Treatment will be provided for any urinary outlet obstruction.

Expectations (prognosis)

Bilateral renal agenesis and hypoplastic lungs are incompatible with life.

Complications

This is a fatal condition.

Calling your health care provider

This condition is discovered at the time of birth.

Prevention

There is no known prevention.

Update Date: 10/30/2003

Philip L. Graham III, M.D., M.S., F.A.A.P., Department of Pediatrics, Children's Hospital of New York, Columbia University, New York, NY. Review provided by VeriMed Healthcare Network.

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Last updated: Tue, 06 Jan 2009 00:20:03 GMT
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