Potter syndrome is a congenital abnormality caused by kidney disease, resulting in poor lung development, kidney failure, and physical abnormalities. Lack of embryonic kidney function leads to oligohydramnios, which can cause complications for the developing fetus. Treatment is supportive, and diagnosis can occur in utero or after birth.
The term Potter syndrome refers to a set of congenital abnormalities found in some newborns. The characteristics of this disease include poor lung development, kidney failure, and physical abnormalities. This constellation of abnormalities occurs as a result of kidney disease: low urine output leads to a decrease in amniotic fluid, which then results in congenital problems. Although many developing babies are diagnosed with this disease while still in the womb, others are diagnosed based on their symptoms at birth. Treatment for this disease is supportive in nature and there is no real cure for the disease.
To understand the manifestations of Potter’s 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 absence of the kidney, also known as bilateral renal agenesis, is one cause. Other kidney malformations, such as polycystic kidney disease, urinary outflow tract obstruction, and underdevelopment of the kidney, known as renal hypoplasia, can also cause the syndrome.
Lack of embryonic kidney function triggers a sequence of events that leads the developing baby to have the features of Potter’s syndrome. The kidneys usually make urine, which when excreted contributes amniotic fluid, the fluid that surrounds the developing fetus. Without normal kidney function, there is a decrease in amniotic fluid, a condition referred to as oligohydramnios.
Fetuses with oligohydramnios secondary to renal dysfunction can develop a variety of complications. Amniotic fluid is normally ingested by the fetus, and without enough fluid around it to ingest, the abdominal and thoracic regions may not grow properly. Developing babies also breathe amniotic fluid, and too little fluid can lead to poor lung development. The amniotic fluid also acts as a cushion for the fetus and without this buffer, the fetus can develop physical abnormalities.
Potter’s syndrome can be diagnosed in utero in some cases. Routine ultrasound exams measure how much amniotic fluid is present, and a fetus with oligohydramnios will undergo a more extensive exam that may identify kidney failure. While not much can be done while the baby is still in the womb, pediatricians can be prepared to care for the baby once it is born.
Sometimes Potter’s syndrome isn’t diagnosed until after the baby is born. Often these children have breathing problems due to underdeveloped lungs, also known as pulmonary hypoplasia. They have low urine output due to kidney problems. Newborns also have a distinctive facial appearance, known as Potter facies, which develops due to 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 in utero oligohydramnios.
Treatment for Potter’s syndrome is first and foremost about offering supportive care. Affected children often need respiratory support, in the form of mechanical ventilation or supplemental oxygen. Many of these children will need dialysis to deal with kidney failure. Unfortunately, some of these children have too many congenital anomalies to be adequately treated, and the decision to stop treatment is made by the family.
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