Potter syndrome

Definition
Potter syndrome and Potter phenotype is a complex of findings associated with Kidney failure that develops before an infant is born and with a lack of amniotic fluid.

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) that includes widely separated eyes with epicanthal folds, broad nasal bridge, low set ears and receding chin.

In addition, because of limited space in the uterus, 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 Kidney failure that occurs before the baby is born, either from failure of the kidneys to develop (bilateral renal agenesis) or from other diseases which cause the kidneys 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  
  • Difficulty breathing

Signs and tests
Signs include:

     
  • Stiff lungs during resuscitation effort, requiring high pressure for ventilation  
  • Absence of amniotic fluid  
  • Urogenital abnormalities

The following tests may be used to help diagnose the condition:

     
  • Fetal ultrasound (of mother before birth) - may show lack of amniotic fluid, absence of fetal kidneys, or severely abnormal kidneys  
  • X-ray of the abdomen (of newborn)  
  • X-ray of the lungs (of newborn)  
  • Blood gases

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

Expectations (prognosis)
This is a fatal condition. Bilateral renal agenesis and hypoplastic lungs are incompatible with life.

Prevention
There is no known prevention.

Johns Hopkins patient information

Last revised: December 5, 2012
by Potos A. Aagen, M.D.

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