He Potter's syndrome Is a rare and serious inherited autosomal recessive disorder that affects newborns and is characterized by marked oligohydramnios (lack of amniotic fluid, which surrounds the baby in the embryonic stage), polycystic kidneys, renal agenesis (or absence of A kidney or both at birth) and obstructive uropathy (urine blockage).
This disease was first described by pathologist Edith Potter in 1946, which pointed to the similar facial features of a series of infants who had bilateral renal agenesis. From there, he gradually unraveled the typical symptoms of the disease.
It has also been called Potter sequence or oligohydramnios sequence. The concept of Potter syndrome at first referred only to cases caused by bilateral renal agenesis, although many researchers now use it for any case that appears linked to a lack of amniotic fluid.
What is its prevalence?
Potter syndrome occurs in about 1 in 4000 births and fetuses, however, there are recent data that estimate that the frequency can be much higher.
Men are more likely than women to develop this syndrome. This may be because of the higher rate found in men of prune abdomen (or Eagle-Barrett disease), and Obstructive uropathy (Diseases that are associated with this syndrome). Although it has been suspected that the Y chromosome has something to do. However, this is not known with certainty.
Babies born with this syndrome usually die very early or are born dead. This is usually due to pulmonary insufficiency and bilateral renal agenesis.
33% of babies die in utero, while a survival rate of 70% has been documented in 23 infants with Potter's syndrome and pulmonary hypoplasia (Klaassen, Neuhaus, Mueller-Wiefel & Kemper, 2007).
Newborns with the mildest form of Potter syndrome may have complications from typical respiratory failure, pneumothorax And acute renal failure. Those who reach early childhood may have chronic lung disease and kidney failure.
How is it produced?
The production of urine in the fetus is the main mechanism to produce an adequate volume of amniotic fluid, which begins about the fourth month of pregnancy. The fetus continuously swallows amniotic fluid , It is absorbed again in the intestine and then is again expelled through the kidneys (through the urine) into the amniotic cavity.
In this disease, the amount of amniotic fluid is insufficient mainly because the kidneys of the baby do not work well. Usually what happens is that in the gestation period the kidneys do not form properly, missing one or both (renal agenesis). Although obstruction of the urinary tract or, sometimes, rupture Of the membrane enclosing the amniotic fluid.
This lack of amniotic fluid is the main cause of Potter's symptoms.
Potter's disease can occur by two genetic diseases, which are both autosomal dominant polycystic kidney disease and autosomal recessive. In this way, a family history of kidney disease may 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 represent an autosomal dominant trait.
Although certain genetic mutations have been associated with conditions commonly encountered in Potter syndrome, such as autosomal recessive or dominant polycystic kidney disease and multicystic renal dysplasia; There is nothing definite in bilateral renal agenesis.
In summary, the concrete genetic traits are not known with certainty today and it is something that continues investigating.
What is known is that there appears to be no direct association of substance abuse or hazardous environmental factors during pregnancy in the onset of bilateral renal agenesis or Potter syndrome.
What are the symptoms?
- The main defect in the Potter sequence is renal failure.
- Lack of amniotic fluid: this can cause many problems since the liquid helps to lubricate the body parts of the fetus, protects it and contributes to the development of its lungs. When this fluid is missing, 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, as in the feet and arch of the legs. Sirenomyelia or siren syndrome, which consists of the fusion of the legs, may also occur.
- Atypical facial appearance such as a wide nasal bridge or"parrot beak"nose, separate eyes and lower-than-normal ears.
- Excess skin, being frequent in those affected a skin fold in the area of the cheek.
- Adrenal glands with the appearance of small oval discs that press the posterior abdomen associated with renal malfunction.
- Bladder smaller than normal and not too dilatable, storing too little fluid.
- Men may lack the vas deferens and seminal vesicles.
- In women, the uterus and upper part of the vagina may not develop.
- Anal atresia: occurs when the rectum is not correctly connected to the anus. The same may occur in the esophagus, duodenum, or umbilical artery.
- Sometimes you can give a Congenital diaphragmatic hernia Which 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 seems to influence the proper movement of the amniotic fluid through the lungs during the fetal stage. Of course if there is not enough amniotic fluid, the lungs will not develop properly.
- Consequently, to the above, there are serious respiratory problems that are often the cause of the early mortality in those affected.
Associated disorders
In addition to those already mentioned, Potter's syndrome has been linked to other problems such as Down's Syndrome , he Kallmann's syndrome , And branquio-oto-renal syndrome (BOR), among others.
How is it diagnosed?
During pregnancy you can see Ultrasound If there is less amniotic fluid in the count, or if the fetus has abnormalities in the kidneys or absence of them.
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 is going to take a sample of blood in the fetus to carry out a amniocentesis . This serves to see if the number of chromosomes is correct or if there are alterations in some of its parts or translocations.
This may be useful to rule out other associated diseases such as Down syndrome. Exploring the genome of the father, mother, affected baby and siblings is essential for detecting possible inherited mutations.
How can it be treated?
There are no treatments for this disease and its prognosis is very negative, they usually die before being born or shortly thereafter. If you survive 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 being born a saline solution was injected in the maternal uterus with the aim of helping the fetal lung development.
At birth the baby found that the intervention had been successful and could breathe on its own. The latest news we have of her is published on April 15, 2016, and survives after having had a kidney transplant.
References
- De Pietro, M. (November 19, 2013). Oligohydramnios Sequence (Potter's Syndrome) . Retrieved from Healthline.
- Gupta, S. (June 21, 2015). Potter Syndrome . Obtained from Medscape.
- Klaassen I, Neuhaus TJ, Mueller-Wiefel DE, Kemper MJ. Antenatal oligohydramnios of renal origin: long-term outcome. Nephrol Dial Transplant . 2007 Feb. 22 (2): 432-9.
- Potter sequence . (S.f.). Retrieved on June 24, 2016, from Wikipedia.
- Srikanth M. Shastry, S.M., Kolte, S.S. And Sanagapati P.R. (2012). Potter's Sequence. J Clin Neonatol, 1 (3): 157-159.
- Tortajada Girbés, M., Clement Paredes, A., García Muñoz, E., Gracia Antequera, M., Delgado Cordón, F., & Hernández Marco, R. (2007). Infant pulmonary hypoplasia. Anesthesiology, 67: 81-83.
- Weisensee Egan, N. (April 15, 2016). Congresswoman's 'Miracle Baby' Born Without Kidneys Finally Gets One - from Her Dad: 'We Are Blessed' .