Potter's syndrome is called a serious defect in the development of the fetus. We begin the characterization by determining this anomaly.
What is Potter Syndrome?
Potter's syndrome is a congenital defect in the development of the fetus, in which he has completely no kidneys, which is a consequence of a decrease in the volume of amniotic fluid.
The result of oligohydramnios is squeezing the fetus in the womb. Children also have poorly developed lungs, a typical wrinkled face and a squeezed skull, and deformed limbs.
In 1964, Potter described a developmental defect characterized by agenesis (lack of development) of both kidneys of the fetus or aplasia (absence of any organ or part of the body), combined with facial abnormalities. This syndrome is mentioned in the medical literature as well as Potter’s syndrome with agenesis of 2 kidneys, Gross renal-facial syndrome, and 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. Compression of the fetus by the uterus leads to the development of abnormalities of the kidneys, face (flattening and flattening), heart, rectum, genitals, lungs (hypoplasia), limbs (clubfoot).
Potter syndrome occurs in infants, children aged several months, less often in babies older than a year, and most often in boys. The frequency of manifestation of the defect: 1 in 50 thousand births.
Parent examination
What are the symptoms of Potter syndrome in the fetus? Large white kidneys are what can be seen with ultrasound. Such agenesis can be dominantly inherited (the heredity of the other parent cannot suppress it), i.e. not related to the amount of amniotic fluid. One of the parents may have an underdevelopment or absence of one of the kidneys, which could have been missed during medical examinations earlier.
Renal agenesis is inherited dominantly, which means that there is a 50% chance of having a fetus who will have Potter syndrome.
Potter's syndrome with a 75 percent probability can occur in a baby if mutations in the PKHD1 gene are found in his parents. 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 giving birth to a baby with Potter syndrome can occur when inheriting mutations from both parents. If the genetic changes of only the father or mother are transmitted to the fetus, then with a 50 percent probability he will be born healthy. 25% of babies do not inherit PKHD1 mutations from both parents, who have such changes at the gene level.
Symptoms of the syndrome
Potter's syndrome in the fetus is diagnosed by the following manifestations:
- extremely narrow crevices of the eyelids;
- characteristic groove under the eyelid line;
- underdevelopment of the lower jaw (micrognation);
- flattened nose;
- an abnormally large distance between the 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;
- abnormally shaped soft large ears.
Treatment option
At birth, the main symptom is severe respiratory failure, which manifests itself from the first minutes of an independent life. Artificial ventilation is complicated by pneumothorax (the presence of air bubbles in the pleural region, which impede the rhythmic movement of the lungs).
Unfortunately, the vast majority of newborns diagnosed with Potter syndrome die a few hours after birth. With its lighter forms relating to the digestive (digestive) tract - genitourinary cesspool (connection of the anal and genitourinary ducts into one), the absence of perforation of the anus (proper design) - surgical intervention is used.
Surviving Child with Potter Syndrome
In 2013, media reported about a newborn girl, Abigail Butler, the daughter of a member of the United States House of Representatives, Republican Congresswoman Jaime Herrer-Butler. The child was able to survive with this syndrome, which interferes with the normal functioning of the respiratory system.
At the 5th month of pregnancy, the woman found out that the girl did not excrete urine due to the complete absence of kidneys. The reason was a deficiency of amniotic fluid in pregnant Jaime Herrer-Butler. Despite the conclusion of the doctors who declared this case fatal, the woman decided to continue the pregnancy with her husband. In order to somehow compensate for the small amount of amniotic fluid, a special saline solution was injected into Jaime's uterus. John Hopkins , the doctor who conducted this therapy, could not absolutely guarantee the spouses that the treatment would lead to a satisfactory result.
But on July 15, 2013, little Abigail was born alive. According to the mother’s recollections, 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 renal functions, which removes metabolic products from the body. After a year, it is replaced by donor kidneys.
The chance of having a living baby with Potter syndrome and its subsequent successful rehabilitation in modern realities is still considered a miracle. Therefore, doctors insist on abortion when diagnosing such a defect in the fetus. The example of Abigail Butler cannot but reassure, but it is worth understanding that this is an exceptional case.