The potter syndrome is a rare and serious autosomal recessive inherited disorder that affects newborns and is characterized by marked oligohydramnios (lack of amniotic fluid), polycystic kidneys, renal agenesis and obstructive uropathy.
This disease was first described by pathologist Edith Potter in 1946, who pointed out the similar facial features of a series of babies who had bilateral renal agenesis. From there, he gradually unraveled the typical symptoms of the disease..
It has also been called the Potter sequence or oligohydramnios sequence. The concept of Potter syndrome at first only referred to cases caused by bilateral renal agenesis, although currently many researchers use it for any case that appears associated with a lack of amniotic fluid.
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Potter syndrome occurs in approximately 1 in 4000 births and fetuses, however, there is recent data that estimate that the frequency may be much higher..
Men are more likely than women to develop this syndrome. This may be due to the higher rate in men of prune abdomen (or Eagle-Barrett's disease), and obstructive uropathy (diseases that are associated with this syndrome). Although it has been suspected that the Y chromosome has something to do with it. Anyway, this is not known for sure..
Babies born with this syndrome usually die very early or are stillborn. This is usually due to pulmonary failure and bilateral renal agenesis..
33% of babies die in utero, while a 70% survival rate has been documented in 23 infants with Potter's syndrome and pulmonary hypoplasia.
Newborns with the mildest form of Potter syndrome can have complications from typical respiratory failure, pneumothorax, and acute kidney failure. Those who reach early childhood may have chronic lung disease and kidney failure.
The production of urine in the fetus is the main mechanism to produce an adequate volume of amniotic fluid, which begins around the fourth month of pregnancy. The fetus continuously swallows amniotic fluid, this is re-absorbed in the intestine and then is expelled again through the kidneys (in urine) to the amniotic cavity.
In this disease, the amount of amniotic fluid is insufficient mainly because the baby's kidneys do not work well. Normally what happens is that in the gestation period the kidneys do not form properly, missing one or both (renal agenesis).
Although urinary tract obstruction or, sometimes, rupture can also occur of the membrane that encloses the amniotic fluid. This lack of amniotic fluid is the main cause of Potter syndrome symptoms..
Potter's disease can occur from two genetic diseases, which are both autosomal dominant and autosomal recessive polycystic kidney disease. In this way, a family history of kidney disease can increase the risk of developing this syndrome in the fetus..
Thus, in cases of families with a history of unilateral or bilateral renal agenesis, this may be an autosomal dominant trait..
Although certain genetic mutations have been associated with conditions commonly seen in Potter syndrome, such as autosomal recessive or dominant polycystic kidney disease and multicystic renal dysplasia, nothing definitive is found in bilateral renal agenesis..
In summary, the specific genetic traits are not known with certainty today and it is something that continues to be investigated.
What is known is that there does not appear to be a direct association of substance abuse or dangerous environmental factors during pregnancy with the appearance of bilateral renal agenesis or Potter's syndrome..
The main symptoms of this syndrome are:
- The main defect in the Potter sequence is kidney failure.
- Lack of amniotic fluid: which can cause many problems as the fluid helps lubricate the parts of the body of the fetus, protects it and contributes to the development of its lungs. When this fluid is lacking, the amniotic cavity is smaller than normal and ends up leaving little space for the fetus, which prevents its normal growth.
- Premature birth
- Malformations: especially in the lower extremities, such as in the feet and bowing of the legs. Sirenomelia or mermaid syndrome can also occur, which consists of the fusion of the legs.
- Atypical facial appearance such as a wide nasal bridge or “parrot-beak” nose, wide-set eyes, and ears set lower than normal.
- Excess skin, with a skin fold in the cheek area being frequent in those affected.
- Adrenal glands with the appearance of small oval discs that press on the posterior abdomen associated with kidney malfunction.
- Bladder smaller than normal and not very dilatable, storing very little fluid.
- In men the vas deferens and seminal vesicles may be missing.
- In women the uterus and upper part of the vagina may not develop.
- Anal atresia: occurs when the rectum is not properly connected to the anus. The same can happen in the esophagus, duodenum or umbilical artery.
- Sometimes a congenital diaphragmatic hernia can occur that prevents the proper development of the diaphragm.
- Immature lungs or pulmonary hypoplasia (congenital anomaly characterized by an interruption of lung development according to Tortajada et al., 2007). This mechanism is not entirely clear, although it appears to influence the proper movement of amniotic fluid through the lungs during the fetal stage. Obviously if there is not enough amniotic fluid, the lungs will not develop properly.
- Consequently, to the above, there are serious respiratory problems that are usually the cause of early mortality in those affected.
In addition to those already mentioned, Potter syndrome has been linked to other problems such as Down syndrome, Kallmann syndrome, and branchial-oto-renal (BOR) syndrome, among others..
During pregnancy it can be seen through ultrasound if there is less amniotic fluid than necessary, or if the fetus has abnormalities in the kidneys or absence of these.
To detect possible problems in the newborn, an X-ray of the lungs and abdomen may be necessary..
On the other hand, you can go to a genetic counselor who will take a blood sample from the fetus to carry out an amniocentesis. This is used to see if the number of chromosomes is correct or if there are alterations in some of its parts or translocations.
This can be helpful in ruling out other associated diseases such as Down syndrome. To detect possible inherited mutations, the exploration of the genome of the father, mother, affected baby and siblings is essential..
There are no treatments for this disease and its prognosis is very negative, they usually die before being born or shortly after. If he survives at birth, resuscitation may be necessary. Some methods can also be used to alleviate symptoms and improve life as much as possible, such as organ transplantation or intervention for obstructive uropathy.
However, there is a case of a baby with Potter syndrome born in July 2013, exposed by Jaime Herrera Beutler who lives today. This is because a few weeks before birth, a saline solution was injected into the mother's uterus with the aim of helping the fetal lung development..
When the baby was born, it was found that the intervention had been a success and that it can breathe on its own. The latest news we have about her is published on April 15, 2016, and she survives after having undergone a kidney transplant.
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