Potter Syndrome

The Potter Syndrome is a combination of agnesia in both kidneys and the resulting lack of amniotic fluid during pregnancy. Without the amniotic fluid, the development of the fetus is disturbed and, for example, forms underdeveloped lungs that are not compatible with life. The course of the syndrome is necessarily fatal.

What is Potter Syndrome?

Potter syndrome is a multi-organ disease. The symptom complex consists of various consequences, which result in a lack of urine production by the fetus and the difficulty in renewing the amniotic fluid.
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In the course of embryogenesis, the initially omnipotent cells develop into increasingly differentiated cell clusters. In this way, piece by piece, a human morphology with all associated organs and tissues is created from an omnipotent cluster of cells. Errors in embryogenesis can have serious consequences, such as the failure of certain organs to develop. That too Potter Syndrome is a disease that manifests itself during embryogenesis.

The symptom complex is counted among the renal agenesis and other reduction defects of the kidney and is also referred to as the oligohydramnios sequence. The American pathologist Edith Louise Potter described the symptom complex for the first time in the 20th century in the context of 5,000 autopsies on 17 male and three female newborns and referred to it at the time as renofacial dysplasia.

The syndrome was later named Potter Syndrome in honor of its first person who wrote it.In the first description, Potter noted the bilateral malposition of the kidneys, which is not compatible with human life, as the most important symptom.

causes

The cause of Potter syndrome and its symptoms is an incorrect or no differentiation of the kidneys. At the current state of research, it has not been conclusively clarified whether a genetic disposition favors the faulty disposition. The primary development factors of the misalignment apparently correspond above all to an insufficient production of amniotic fluid, which leads to the formation of what is known as oligohydramnios.

In this phenomenon, the amount of maternal amniotic fluid during pregnancy is less than 200 to 500 milliliters. After a certain phase of pregnancy, the fetus drinks around 400 milliliters of amniotic fluid a day. Much of it travels back into the amniotic sac in the form of fetal urine. The amount of urine released is of great importance as it will later make up the largest proportion of the amniotic fluid produced again.

If too little urine is produced in the fetal urogenital tract or if too little amniotic fluid is released again due to another connection, the amount of amniotic fluid at the end of pregnancy falls below the average required value and initiates the oligohydramnios sequence.

Symptoms, ailments & signs

Potter syndrome is a multi-organ disease. The symptom complex consists of various consequences, which result in a lack of urine production by the fetus and the difficulty in renewing the amniotic fluid. Malformations in the genitourinary tract are considered to be the leading symptom of the syndrome and appear particularly in the form of agenesies. In most cases there is agnesia of both kidneys.

This initial situation leads to a lack of urine production by the embryo. All other symptoms are based on the conduction symptomatic renal anagnesia. Above a certain amount the amniotic fluid can no longer fulfill any protective functions. Without the protective cover, the child experiences malformations caused by compression. The compressions particularly affect the area of ​​the skull and lead to a craniofacial dysmorphia, which at first glance resembles that of Down's syndrome.

In addition, their lower jaw is often underdeveloped. Their eyes are usually particularly wide apart. The extremities are also deformed. For example, symptomatic clubfoot was increasingly found in the documented cases of Potter syndrome. Since the embryo's lung maturation depends to a certain extent on the amniotic fluid, the general development of the lungs is inhibited. For this reason, patients usually have underdeveloped lungs.

Diagnosis & course of disease

The diagnosis of Potter syndrome is made through a prenatal ultrasound scan. During the first few months of pregnancy, the clinical symptoms are not very pronounced and are therefore not necessarily obvious. Typical changes that indicate Potter syndrome do not appear until around the 17th week of pregnancy.

The main symptom of ultrasound is an extreme growth retardation, which is associated with an increasing forced posture due to the cramped conditions and the reduced amniotic fluid. The prognosis for the embryos is extremely poor. The lack of maturity of the lungs and the failure of the kidneys to develop are incompatible with life in the long term. Therefore, the Potter syndrome is necessarily fatal in its course. In most cases, the affected fetuses die in the womb towards the end of the pregnancy.

Complications

As a rule, Potter syndrome leads to the death of the child. Various malformations and malformations occur, so that the child cannot survive immediately after birth and therefore dies. The parents and relatives often suffer from severe depression or other psychological disorders due to Potter syndrome and therefore need treatment.

Furthermore, the children affected by Potter's syndrome also suffer from symptoms similar to Down's syndrome. The eyes are also underdeveloped and there are severe breathing difficulties and clubfoot. Since almost all organs of the patient are usually affected by the malformations and malformations, direct treatment can no longer be carried out. The child then dies after birth. Furthermore, the parents are then dependent on psychological treatment.

As a rule, there are no particular complications. After giving birth, the mother is given weaning drugs. Other possible pregnancies are not affected by Potter syndrome, so that the desire to have children can still be pursued. Potter syndrome does not lead to complications or other life-threatening complaints for the mother either.

When should you go to the doctor?

With Potter syndrome, a visit to a doctor is always necessary. This disease usually does not heal itself and in most cases the symptoms worsen significantly. In the worst case, the child may die or be mentally and physically disabled, so early diagnosis and treatment are essential. A complete cure is usually not possible, so that the life expectancy of the child can be significantly reduced. The doctor should be consulted if the child suffers from various malformations.

In most cases, however, these malformations are recognized before the birth or immediately after the birth, so that an additional visit to the doctor is not necessary. When diagnosing Potter's syndrome, the child relies on inpatient treatment. If the child survives the first few months, the parents will often need help developing and nurturing the child to alleviate the symptoms of the syndrome.

A visit to a psychologist is also necessary, as the Potter syndrome often leads to psychological upsets and depression in parents and relatives. Contact with other sufferers of the syndrome can also have a positive effect.

Therapy & Treatment

Neither causal nor symptomatic therapy for Potter syndrome is conceivable. The multi-organ symptoms are too severe to be treated symptomatically. Because of the controversial nature of genetic dispositions, there is not even the slightest prospect of causal therapy. Supportive therapy for the mother and possibly the father is usually the only treatment option.

Psychotherapeutic care forms the center of this therapy. The parents concerned are ideally introduced to say goodbye before the death of the fetus. After death, the therapy continues in a working-up manner. If the fetus dies in the womb, labor is most often induced artificially. The epidural anesthesia is used to eliminate pain. After the artificially induced birth, the mother is given medication for weaning. The parents are offered the opportunity to have the child autopsied.

prevention

So far, there are no preventive measures available for Potter syndrome. Which factors favor the causal agnesia of the kidneys has not been conclusively clarified. Only when these factors have been clarified can preventive measures be taken.

Aftercare

Since there is no curative therapy for Potter syndrome, follow-up care for the parents focuses primarily on the psychological level. Causal relationships are not yet known, but women should watch out for special symptoms after the birth of the child with the fatal disease. These could indicate a previous illness in the mother.

The fatal course for the child makes psychotherapeutic treatment of the parents necessary. They should seek the expert help to prevent depression. Empathetic, mental support from the family helps to get through the difficult time immediately after the birth. Some health professionals advise not to wait too long for the next pregnancy to make the loss easier to overcome.

Depending on the situation and the immediate reaction of the parents, a break is also advisable. In the time after the birth, the parents should not suppress the topic, but speak openly with each other and with people who are close to them. In this way, unnecessary accusations or complexes can be avoided. It is also advisable for the mother to take breastfeeding agents on medical advice. Some parents also want to have their child autopsied in order to consciously say goodbye.

You can do that yourself

Potter syndrome is usually fatal. If the baby was born without kidneys, it will die within a few days of birth. In such a difficult course, the child's parents first need therapeutic support. Some doctors recommend getting pregnant again quickly after a child dies. This often makes it easier to overcome the loss. In other cases, it helps the parents if they take a break and talk a lot about the event afterwards.

Women should look out for any unusual symptoms after having a child with Potter syndrome. Often the condition was favored by a previous physical illness or problems arise as a result of the complicated birth.

If the outcome is positive, the baby is dependent on dialysis. Parents must monitor the child around the clock and ensure that medical attention is available immediately in the event of an emergency. Equally important is a balance to the stressful everyday life with a sick child. For this purpose, the doctors should speak to the doctor or a therapist, who can give tips for accompanying measures and therapies.