Potter ‘s syndrome is a combination of agnesia of both kidneys and a resulting lack of amniotic fluid during pregnancy. Without the amniotic fluid, the development of the fetus is disturbed and, for example, develops underdeveloped lungs that are not compatible with life. The course of the syndrome is necessarily lethal.
What is Potter Syndrome?
In the course of embryogenesis, the initially omnipotent cells develop into increasingly differentiated accumulations of cells. In this way, a human morphology with all the associated organs and tissues develops piece by piece from an omnipotent cell cluster. Errors in embryogenesis can have serious consequences, such as the failure of certain organs to develop. Potter syndrome is also a disease that manifests itself during embryogenesis. See healthknowing for What is the Definition of Duane Syndrome.
The symptom complex is counted among renal agenesis and other reduction defects of the kidneys and is also referred to as oligohydramnios sequence. The American pathologist Edith Louise Potter first described the symptom complex in the 20th century during 5,000 autopsies on 17 male and three female newborns and called it renofacial dysplasia at the time.
The syndrome was later named Potter syndrome in honor of its first describer. In the first description, Potter stated that the most important symptom was the bilateral malformation of the kidneys, which is not compatible with human life.
Causes
Potter syndrome and its symptoms are caused by defective or non-differentiating of the kidneys. Whether a genetic disposition favors the malformation has not been conclusively clarified at the current state of research. The primary developmental factors of the malformation apparently correspond above all to an insufficient production of amniotic fluid, which leads to the formation of a so-called oligohydramnios.
In this phenomenon, the amount of amniotic fluid in the mother falls below 200 to 500 milliliters during pregnancy. From 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 that is passed back is of great importance, as it later makes up the majority of the amniotic fluid that is 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 falls below the average required value towards the end of pregnancy and initiates the oligohydramnios sequence.
Symptoms, Ailments & Signs
Potter syndrome is a multiorgan disease. The symptom complex consists of various consequences, which entail a lack of urine production in the fetus and the resulting difficulty in amniotic fluid renewal. Malformations in the urogenital tract are considered the main symptom of the syndrome and appear in particular in the form of agenesis. Agnesia of both kidneys is present in most cases.
This initial situation leads to the failure of the embryo to produce urine. All other symptoms are based on the main symptomatic renal agnesia. Above a certain amount, the amniotic fluid can no longer fulfill any protective functions. Without the protective shell, the child experiences deformities caused by compression. The compressions particularly affect the cranial area and lead to a craniofacial dysmorphism, which at first sight resembles that of Down syndrome.
In addition, their lower jaw is often underdeveloped. Their eyes are usually very far apart. The extremities also deform. For example, symptomatic clubfoot was increasingly found in the documented cases of Potter syndrome. Since the development of the lungs of the embryo depends to some 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 during a prenatal ultrasound examination. During the first months of pregnancy, the clinical symptoms are only slightly pronounced and are therefore not necessarily obvious. Typical changes that indicate Potter syndrome do not appear until about the 17th week of pregnancy.
An extreme growth retardation, which is associated with an increasing constrained posture due to the cramped conditions and reduced amniotic fluid, is the main symptom found on ultrasound. The prognosis for the embryos is extremely unfavorable. The lack of maturity of the lungs and the lack of development of the kidneys are not compatible with life in the long term. Therefore, the course of Potter syndrome is necessarily fatal. In most cases, the affected fetus dies 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 directly after birth and therefore dies. Parents and relatives often suffer from severe depression or other mental disorders as a result of Potter syndrome and therefore need treatment.
Furthermore, the children affected by Potter’s syndrome also suffer from symptoms that are similar to Down’s syndrome. The eyes are also underdeveloped and severe breathing difficulties and clubfoot develop. Since, as a rule, almost all of the patient’s organs are 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.
Usually there are no special complications. The mother receives breastfeeding medication after the birth. Other possible pregnancies are not affected by Potter syndrome, so that the desire to have children can continue to be pursued. Potter syndrome does not lead to complications or other life-threatening symptoms for the mother either.
When should you go to the doctor?
In Potter syndrome, a visit to a doctor is necessary in any case. This disease usually does not heal itself and in most cases the symptoms worsen significantly. In the worst case, the child can die or be mentally and physically handicapped, 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 birth or immediately 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 few months, parents often need help in developing and nurturing the child to alleviate the symptoms of the syndrome.
Furthermore, 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 people affected by the syndrome can also have a positive effect.
Treatment & Therapy
Neither a causal nor a symptomatic therapy of Potter’s syndrome is conceivable. The multiorgan symptoms are too severe to be treated symptomatically. A causal therapy is not even remotely possible due to the contentious nature of genetic dispositions. Supportive therapy for the mother and possibly the father is usually the only treatment option.
Psychotherapeutic care is at the heart of this therapy. Ideally, the affected parents will be introduced to saying goodbye before the death of the fetus. After death, the therapy continues. If the fetus dies in the womb, labor is induced artificially in most cases. Epidural anesthesia is used to eliminate pain. After the artificially induced birth, the mother receives medication to stop breastfeeding. The parents receive the offer to have the child autopsied.
Prevention
So far, no preventive measures are available for Potter syndrome. Which factors promote the causal agnesia of the kidneys has not been conclusively clarified. Preventive measures can only be taken once these factors have been clarified.
Aftercare
Since there is no curative therapy for Potter syndrome, the follow-up care for the parents focuses primarily on the psychological level. Causal connections are not yet known, but women should watch out for special symptoms after the birth of the child with the deadly disease. These could indicate a previous illness of the mother.
The lethal course for the child makes psychotherapeutic treatment of the parents necessary. They should seek professional help to prevent depression. Empathetic, mental support from the family helps to get through the difficult time immediately after the birth. Some doctors advise not to wait 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 time after the birth, the parents should not suppress the topic, but talk openly with each other and with people close to them. In this way, unnecessary blame or complexes can be avoided. It is also recommended for the mother to take medication to stop breastfeeding 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 after birth. With such a severe course, the parents of the child first 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 to take time off and talk a lot about the event afterwards.
Women should watch out for unusual symptoms after giving birth to a child with Potter syndrome. The suffering was often favored by a previous physical illness or problems arise as a result of the complicated birth.
If the course is positive, the baby is dependent on dialysis. Parents must monitor the child 24 hours a day and ensure that medical attention arrives promptly in the event of an emergency. Equally important is a balance to the stressful everyday life with a sick child. For this, the doctors should talk to the doctor or a therapist who can give tips for accompanying measures and therapies.
