Potter's syndrome is a serious defect in the development of the fetus. We begin with the definition of this anomaly.
Potter's syndrome is a congenital defect of fetal development, in which he has completely no kidneys, 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 the developmental defect,characterized by agenesis (lack of development) of both fetal kidneys or aplasia (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.
The etiology (origin) of the syndrome is still notstudied to the end. 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 anomalies of the kidneys, face (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.
Какими симптомами сопровождается синдром Поттера a fetus? Large white buds are what can be seen 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% probability of fetal birth, which will have Potter's syndrome.
Синдром Поттера с 75-процентной вероятностью may appear in the baby if his parents have 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 syndrome canShow up when inheriting mutations from both parents. If the fetus is given genetic changes only to the father or mother, then with a 50 percent probability, it will be born healthy. 25% of babies do not inherit PKHD1 mutations from both parents who have such changes at the gene level.
The diagnosis of Potter's syndrome in the fetus is as follows:
At the birth of a child, the main symptom is severerespiratory insufficiency, 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 overwhelming majority of newborns,who are diagnosed with Potter's syndrome, die within a few hours after birth. 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.
In 2013, the media reported on thethe newborn girl Abigail Butler, the daughter of a member of the House of Representatives of the United States Parliament, Republican Congressman Jaime Herrer-Butler. The child was able to survive with this syndrome, which prevents the normal functioning of the respiratory system.
In the 5th month of pregnancy, a woman found out thatgirls do not excrete urine due to the complete absence of kidneys. The cause was a deficiency of amniotic fluid in pregnant Jaime Herrer-Butler. Despite the conclusion of the doctors who declared the case fatal, the woman and her husband decided to keep the pregnancy. In order to somehow compensate for a 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 July 15, 2013 little Abigail was born.alive. According to the recollections of the mother, the girl did not scream at birth, but after a while she cried - the child’s lungs were functioning. After birth, she was immediately transferred to dialysis - a system that completely replaces the kidney functions, removing metabolic products from the body. A year later, it is replaced by donor kidneys.
The chance of a live baby with the syndromePotter and his subsequent successful rehabilitation in the conditions of modern realities is still considered a miracle. Therefore, doctors insist on abortion while diagnosing such a defect in a fetus. An example of Abigail Butler can not but encouraging, but it is worth understanding that this is an exceptional case.
