Potter syndrome is a serious defect in the development of the fetus. Let's start the characterization with the definition of this anomaly.
What is the Potter Syndrome?
Potter syndrome is a congenital defect in the development of the fetus, in which the kidneys are completely absent, which is a consequence of a decrease in the volume of amniotic fluid.
The result of oligohydramnios is the squeezing of the fetus in the womb. Children also have poorly developed lungs, a typical wrinkled face and a compressed skull, and deformed limbs.
In 1964, Potter described a developmental defect characterized by agenesis (lack of development) of both fetal kidneys or aplasia (absence of any organ or body part), combined with facial abnormalities. This syndrome is referred to in the medical literature as well as Potter's syndrome with agenesis of 2 kidneys, Gross's renal facial syndrome, facial renal dysplasia.
Fetal Potter syndrome: causes
The etiology (origin) of the syndrome is still not fully understood. In 50% of cases, it was found that the primary anomaly manifests itself due to the lack of amniotic fluid (fetal fluid) in a pregnant woman. Compression of the fetus by the uterus leads to the development of anomalieskidneys, 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. Defect frequency: 1 in 50,000 births.
Examination of parents
What are the symptoms of Potter syndrome in the fetus? Large white kidneys are what can be seen on an ultrasound. Such agenesis may be dominantly inherited (the heredity of the other parent cannot suppress it), i.e. unrelated to the amount of amniotic fluid. One of the parents may have an underdevelopment or absence of one of the kidneys, which may have been missed during medical examinations earlier.
Renal agenesis is dominantly inherited, which means there is a 50% chance of a fetus being born with Potter syndrome.
Potter Syndrome has a 75% chance of developing in a baby if his parents have mutations in the PKHD1 gene. They occur on average in 1 in 50 people. Such mutations do not lead to the rapid development of a defect in the carrier; they can be passed down from generation to generation for decades.
The risk of having a baby with Potter's syndrome can manifest itself when inheriting mutations from both parents. If only the father's or mother's genetic changes are passed on to the fetus, then with a 50 percent probability hebe born he althy. 25% of babies do not inherit PKHD1 mutations at all 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 eyelid slits;
- characteristic furrow under the eyelid line;
- underdevelopment of the lower jaw (micrognathia);
- flattened nose;
- 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;
- abnormally shaped soft big ears.
Possibility of treatment
At the birth of a child, the main symptom is severe respiratory failure, which manifests itself from the first minutes of independent life. Mechanical ventilation is complicated by pneumothorax (the presence of air bubbles in the pleural region that impede the rhythmic movement of the lungs).
Unfortunately, the vast majority of newborns diagnosed with Potter's syndrome die a few hours after birth. In its milder forms related to the digestive (alimentary) tract - the urogenital cloaca (the connection of the anal and urogenital ducts into one), the absence of perforation of the anus (correct design) - surgical intervention is used.
Potter Syndrome Child Survivor
In 2013, information appeared in the media aboutbaby girl Abigail Butler, daughter of Republican Congresswoman Jaime Herrer-Butler, member of the United States House of Representatives. The child was able to survive with this syndrome, which interfered with the normal functioning of the respiratory system.
At the 5th month of pregnancy, the woman found out that the girl did not pass urine due to the complete absence of kidneys. The reason was the deficiency of amniotic fluid in the pregnant Jaime Herrer-Butler. Despite the conclusion of doctors who declared this case fatal, the woman and her husband decided to keep the pregnancy. 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 began to cry - the child's lungs were functioning. After birth, she was immediately transferred to dialysis - a system that completely replaces kidney functions, removing metabolic products from the body. A year later, she is replaced by a donor kidney.
The chance of having a live baby with Potter syndrome and his subsequent successful rehabilitation in today's realities is still considered a miracle. Therefore, doctors insist on termination of pregnancy when diagnosing such a defect in the fetus. The example of Abigail Butler cannot but be encouraging, but it should be understood thatthis is an exceptional case.
