Potter Syndrome: Causes, Symptoms & Treatment

Potter syndrome is a combination of agnesia of both kidneys and a resulting lack of amniotic fluid during pregnancy. Without the amniotic fluid, the fetus is impaired in development and forms, for example, underdeveloped lungs that are incompatible with life. The course of the syndrome is necessarily lethal.

What is Potter syndrome?

During embryogenesis, cells that are initially omnipotent develop into increasingly differentiated collections of cells. Thus, piece by piece, a human morphology with all associated organs and tissues emerges from an omnipotent cluster of cells. Errors in embryogenesis can have serious consequences, such as the lack of certain organs. Potter syndrome is also a condition that manifests during embryogenesis. The symptom complex is categorized as a renal agenesis and other reduction defects of the kidney and is also known as the oligohydramnios sequence. U.S. pathologist Edith Louise Potter first described the symptom complex in the 20th century in the context of 5,000 autopsies on 17 male and three female newborns, and at that time referred to it as renofacial dysplasia. Later, the syndrome was given the name Potter syndrome in honor of its first describer. In the initial description, Potter recorded bilateral malposition of the kidneys as the most important symptom, which is incompatible with human life.

Causes

The cause of Potter syndrome and its symptoms is defective or absent differentiation of the kidneys. Whether a genetic predisposition favors the malformation has not been conclusively determined at the current stage of research. The primary causative factors of the malformation appear to correspond primarily to an insufficient production of amniotic fluid, which leads to the formation of a so-called oligohydramnion. In this phenomenon, the amount of maternal amniotic fluid falls below a level of 200 to 500 milliliters during pregnancy. The fetus drinks about 400 milliliters of amniotic fluid per day from a certain stage of pregnancy. In the form of fetal urine, much of this passes back into the amniotic sac. The amount of urine returned is of great importance, as it later constitutes the largest proportion of the amniotic fluid produced again. If too little urine is produced in the fetal genitourinary tract or if too little amniotic fluid is re-delivered by some other association, the amount of amniotic fluid falls below the average required level toward the end of pregnancy and initiates the oligohydramnios sequence.

Symptoms, complaints, and signs

Potter syndrome is a multiorgan disorder. The symptom complex consists of various consequences that entail a lack of urine production by the fetus and thus impeded amniotic fluid renewal. Malformations of the urogenital tract are considered the leading symptom of the syndrome and appear especially in the form of agenesia. In most cases there is agnesia of both kidneys. This initial situation leads to the absence of urine production by the embryo. All further symptoms are based on the lead symptomatic renal agenesis. The amniotic fluid can no longer perform protective functions above a certain level. Without the protective covering, the child experiences malformations caused by compressions. The compressions particularly affect the cranial region and result in craniofacial dysmorphia, which at first glance resembles that of Down syndrome. In addition, their lower jaw is often underdeveloped. Their eyes are usually particularly wide apart. The extremities are also deformed. For example, documented cases of Potter syndrome have been found to have more symptomatic clubfoot. Since the embryo‘s lung maturation depends to some extent on the amniotic fluid, the general development of the lungs is inhibited. Patients usually have underdeveloped lungs for this reason.

Diagnosis and course of the disease

The diagnosis of Potter syndrome is made during a prenatal ultrasound examination. During the first months of pregnancy, clinical symptoms are mild and therefore do not necessarily catch the eye. It is not until about the 17th week of pregnancy that typical changes suggestive of Potter syndrome appear.The leading symptom on ultrasound is extreme growth retardation associated with increasing forced posture due to constrictive conditions and decreased amniotic fluid. The prognosis for the embryos is extremely unfavorable. The lack of maturity of the lungs and the failure to develop the kidneys are incompatible with life in the long term. Therefore, Potter syndrome is considered necessarily lethal in its course. In most cases, affected fetuses die while still in the womb toward the end of pregnancy.

Complications

As a rule, Potter syndrome leads to the death of the child. Various malformations and deformities occur, so that the child cannot survive directly after birth and therefore dies. It is not uncommon for the parents and relatives to suffer from severe depression or other psychological upsets as a result of Potter syndrome and therefore require treatment. Furthermore, the affected children of Potter syndrome also suffer from conditions similar to Down syndrome. The eyes are also underdeveloped and there are severe breathing problems and clubfoot. Since almost all of the patient’s organs are usually affected by the malformations and deformities, direct treatment can no longer be given. The child then dies after birth. Furthermore, the parents are then dependent on psychological treatment. As a rule, no particular complications occur. The mother receives weaning medication after the birth. Other possible pregnancies are not affected by Potter syndrome, so that the desire to have a child can continue to be pursued. Potter syndrome also does not cause complications or other life-threatening conditions for the mother.

When should you see a doctor?

Potter syndrome always requires a visit to a doctor. There is usually no self-healing with this condition, and in most cases there is also a significant worsening of symptoms. 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 may also be considerably reduced. The doctor should be consulted if the child suffers from various malformations. In most cases, however, these malformations are detected before birth or even directly after birth, so that an additional visit to the doctor is not necessary. When Potter syndrome is diagnosed, the child is dependent on inpatient treatment. If the child survives the first months, the parents often need help with the development and support of the child to alleviate the symptoms of the syndrome. Furthermore, a visit to a psychologist is also necessary, since the Potter syndrome often causes psychological upsets and depression in the parents and relatives. In this regard, contact with other people affected by the syndrome can also have a positive effect.

Treatment and therapy

Neither a causal, nor a symptomatic therapy of Potter syndrome is conceivable. The multiorgan symptoms are too severe to be treated symptomatically. Causal therapy is not even remotely possible because of the disputability of genetic dispositions. Supportive therapy for the mother and, if necessary, the father is usually the only treatment option. Psychotherapeutic care forms the center of this therapy. Ideally, the affected parents are introduced to saying goodbye before the death of the fetus. After the death, the therapy continues in a reprocessing manner. If the fetus dies in the womb, birth is induced artificially in most cases. Peridural 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

To date, no preventive measures are available for Potter syndrome. The factors that promote causative renal agnesia have not been conclusively determined. Only with clarification of these factors can there be preventive measures.

Follow-up

Because there is no curative therapy for Potter syndrome, follow-up care for parents focuses primarily on the psychological level. Causal relationships are not yet known, but women should still be alert for particular symptoms following the birth of a child with the fatal condition.These could indicate a previous illness of the mother. The lethal course for the child makes psychotherapeutic treatment of the parents necessary. They should make use of expert support to prevent depression. Empathetic mental support from the family helps to get through the difficult time immediately after the birth. Some medical professionals advise not waiting too long to get pregnant again so that the loss is easier to overcome. Depending on the situation and the immediate reaction of the parents, time off is also advisable. In the period after the birth, parents should not suppress the topic, but talk openly with each other and also with close people. In this way, useless recriminations or complexes can be avoided. It is also advisable for the mother to take weaning remedies on her doctor’s advice. Some parents also want to have their child autopsied as a conscious way to say goodbye.

What you can do yourself

Potter syndrome is usually fatal. If the baby was born without kidneys, it will die within a few days after birth. With such a severe course, the child’s parents initially need therapeutic support. Some doctors recommend getting pregnant again quickly after the death of a child. This often makes it easier to overcome the loss. In other cases, it helps the parents if they take time out and talk a lot about the event in the aftermath. Women should watch for unusual symptoms after the birth of a child with Potter syndrome. Often, the condition was fostered by a previous physical illness or there are problems as a result of the complicated birth. In the case of a positive outcome, the baby is dependent on dialysis. Parents must monitor the child around the clock and ensure that medical help arrives promptly in the event of an emergency. Equally important is a balance to the stressful daily routine with a sick child. For this, physicians should talk to the doctor or a therapist who can give tips for accompanying measures and therapies.