Potter's syndrome: causes, symptoms, diagnosis

Potter's syndrome is a serious defect in the development of the fetus. We begin with the definition of this anomaly.

What is Potter Syndrome?

Potter's syndrome is a congenital defect of fetal development, in which he has no kidneys completely, which is a consequence of a decrease in the volume of amniotic fluid.

The result of lack of water is the squeezing of the fetus in the womb. Children also have poorly developed lungs, a typical wrinkled face and a squashed skull, deformed limbs.

In 1964, Potter described a developmental defect characterized by agenesis (lack of development) of both fetal kidneys or aplasia (the absence of any organ or part of the body), combined with anomalies of the face. This syndrome is mentioned in the medical literature as well as Potter's syndrome with 2 renal agenesis, Gross's renal-facial syndrome, facial renal dysplasia.

Potter's syndrome in the fetus: causes

The etiology (origin) of the syndrome is still not fully understood. In 50% of cases it was revealed that the primary anomaly is manifested due to the absence of amniotic fluid (fetal water) in a pregnant woman. Fetal compression by the uterus leads to the development of kidney anomalies, facial (flattening and flattening), heart, rectum, genitalia, lungs (hypoplasia), limbs (clubfoot).

There is a Potter syndrome in infants, children at the age of several months, less often in children over the age of the year, most often in boys. The frequency of manifestation of a defect: 1 per 50 thousand births.

Examination of parents

What symptoms are accompanied by Potter's syndrome in the fetus? Large white buds are what you can see with ultrasound. Such agenesis can be dominantly inherited (the heredity of the other parent can not suppress it), i.e. Not related to the amount of amniotic fluid. One parent may have an underdevelopment or lack of one of the kidneys, which could be missed during medical examinations earlier.

The renal agenesis is inherited dominantly, which means that there is a 50% chance of a fetus having a Potter syndrome.

Potter's syndrome with a 75-percent probability can occur in the baby, if his parents found mutations in the PKHD1 gene. They occur on average in 1 out of 50 people. Such mutations do not lead to the rapid development of a defect in the carrier, they can be transmitted from generation to generation for decades.

The risk of having a baby with Potter's syndrome can manifest itself by inheriting mutations from both parents. If the fetus is given genetic changes only to the father or mother, then with a 50% probability, it will be born healthy. 25% of kids do not inherit PKHD1 mutations from both parents who have such changes at the gene level.

Symptomatology of the syndrome

The syndrome of Potter in the fetus is diagnosed by the following manifestations:

• Extremely narrow crevices of the eyelids;
• A characteristic furrow under the line of the century;
• Underdevelopment of the lower jaw (micrognation);
• Flattened nose;
• An abnormally large distance between paired organs (in particular the eyes) - hypertelorism;
• Convex epicanthus ("Mongolian fold") - a special fold at the inner corner of the eye, covering the lacrimal tubercle;
• Abnormal soft large ears.

The possibility of treatment

At the birth of a child, the main symptom is a severe respiratory failure, which manifests itself from the first minutes of independent life. The artificial ventilation of lungs is complicated by pneumothorax (the presence of air bubbles in the pleural region, which impedes the rhythmic movement of the lungs).

Unfortunately, the vast majority of newborns diagnosed with Potter's syndrome die within hours of delivery. With its lighter forms relating digestive (digestive) tract - urogenital cloaca (connection of the anal and urogenital duct into one), absence of perforation of the anus (correct form) - surgical intervention is applied.

Surviving child with Potter's syndrome

In 2013, the media reported on the newborn girl Abigail Butler, daughter of a member of the House of Representatives of the Parliament of the United States, Republican Congressman Jaime Herrer-Butler. The child was able to survive with this syndrome, which prevents the normal functioning of the respiratory system.

On the 5th month of pregnancy the woman learned that the girl does not have urine due to the complete absence of kidneys. The reason was a deficiency of amniotic fluid in the pregnant Jaime Errer-Butler. Despite the conclusion of doctors who declared this case fatal, the woman together with her husband decided to keep the pregnancy. To somehow compensate for a small amount of amniotic fluid, a special saline solution was injected into Jaime's uterus. John Hopkins - a doctor who conducted this therapy, could not guarantee to the spouses that treatment would lead to a satisfactory result.

But on July 15, 2013 little Abigail was born alive. According to the mother's recollection, the girl did not scream at birth, but after a while she cried - the baby's lungs were functioning. After birth, she was immediately transferred to dialysis - a system that completely replaces the kidney function, which removes metabolic products from the body. A year later, it is replaced by donor kidneys.

The chance for the birth of a live baby with Potter's syndrome and its subsequent successful rehabilitation in conditions of modern realities is still considered a miracle. Therefore, doctors insist on interrupting pregnancy when diagnosing a fetus for such a defect. The example of Abigail Butler can not but be reassuring, but it is worthwhile to understand that this is an exceptional case.