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What Is Potter Syndrome?

By Clara Kedrek
Updated Mar 03, 2024
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The term Potter syndrome refers to a collection of congenital abnormalities present in certain newborns. Characteristics of this disease include poor lung development, renal failure, and physical abnormalities. This constellation of abnormalities occurs as a result of kidney disease: low urine output leads to decreased amniotic fluid, which then results in the congenital problems. Although many developing babies are diagnosed with this disease while they are still in the womb, others are diagnosed on the basis of their symptoms at birth. Treatment for this disease is supportive in nature, and there is no true cure for the disease.

In order to understand the manifestations of Potter syndrome, it helps to understand the causes of the condition. The initial event leading to the syndrome is usually problems with the development of the kidneys. Complete kidney absence, also known as bilateral renal agenesis, is one cause. Other kidney malformations, such as polycystic kidney disease, urinary outflow tract obstruction, and inadequate kidney development, known as renal hypoplasia, can also result in the syndrome.

Lack of embryonic kidney function triggers a sequence of events that leads to the developing baby having the characteristics of Potter syndrome. Usually the kidneys form urine, which when excreted contributes to the amniotic fluid, the liquid surrounding the developing fetus. Without normal kidney function, there is decreased amniotic fluid, a condition referred to as oligohydramnios.

Fetuses affected by oligohydramnios secondary to renal dysfunction can develop a number of complications. The amniotic fluid is normally swallowed by the fetus, and without enough liquid around to ingest, the abdominal and thoracic regions might not grow properly. Developing babies also breathe in the amniotic fluid, and insufficient quantities of the fluid can lead to poor lung development. The amniotic fluid also serves as a cushion for the fetus, and without this buffer the fetus can develop physical abnormalities.

Potter syndrome can be diagnosed in utero in some cases. Routine ultrasound examinations measure the amount of amniotic fluid present, and a fetus found to have oligohydramnios will be subject a more extensive workup that could identify the renal insufficiency. Although not much can be done while the baby is still in the womb, pediatricians can be prepared to take care of the baby once it is born.

Sometimes Potter syndrome is not diagnosed until the baby is born. Often these infants have respiratory problems due to the poor development of their lungs, also known as pulmonary hypoplasia. They have low urine output due to the problems with their kidneys. Newborns also have a characteristic facial appearance, known as Potter facies, which develops due to the low amniotic fluid volume and results in a flattened facial appearance with wide-set eyes and a depressed nasal bridge. Limb abnormalities are also possible due to the oligohydramnios in utero.

The treatment for Potter syndrome is to first offer supportive care. Affected babies often need respiratory support, either in the form of mechanical ventilation or supplemental oxygen. Many of these infants will need dialysis in order address the kidney failure. Unfortunately, some of these babies have too many congenital abnormalities to be adequately treated and the decision to withdraw care is made by the family.

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