What is Potter Syndrome?
Potter syndrome (Potter sequence), also known as Potter sequence, is a rare condition that affects the development of the fetus in the uterus. This condition is the result of abnormal growth and function of the kidneys, which affects the amount of amniotic fluid surrounding the baby during pregnancy. If the absence of kidneys in your child’s body leads to their diagnosis, the condition is fatal. Babies who experience mild symptoms or who experience low amniotic fluid during pregnancy (oligohydramnios tetrad) may survive, but as they grow, they may develop chronic lung disease and Chronic kidney conditions may develop.
Who does Potter syndrome affect?
Potter syndrome can affect any baby as the condition results from a lack of amniotic fluid. Some studies have shown that this condition is more common in male babies.
Do children inherit Potter syndrome?
Babies can inherit some causes of Potter syndrome, but Potter syndrome is not a genetic condition. Hereditary causes of Potter syndrome include the following: –
1. Polycystic kidney disease: A child can inherit this condition from one parent (autosomal dominant) or both parents (autosomal recessive) during conception.
2. Renal agenesis:- A child may inherit a genetic mutation of the FGF20 or GREB1L gene that causes problems with kidney development. Renal agenesis can be either autosomal dominant or recessive, where one or two copies of the mutated gene need to be passed on to the child during conception for the child to inherit the condition.
3. Sporadic:- Some genetic changes that cause Potter syndrome occur randomly, without any history of the genetic condition in a person’s family.
How common is Potter syndrome?
Potter syndrome is rare and affects an estimated 1 in 4,000 to 10,000 births.
How does Potter syndrome affect my child’s body?
Potter syndrome affects the way your baby’s internal organs develop and function, especially the kidneys. The kidneys are important for removing waste and fluids from your child’s body. The kidneys make urine, which recycles the amniotic fluid in the uterus during fetal development. If your baby’s kidneys are not working, there won’t be enough amniotic fluid around them in your uterus to provide a protective cushion for your baby. A lack of amniotic fluid causes symptoms that affect how their organs and bodies grow. If your baby’s organs don’t develop fully, they won’t be able to function properly, leading to life-threatening symptoms.
What are the symptoms of Potter syndrome?
The symptoms of Potter syndrome affect each newborn baby differently and vary in severity. Symptoms can affect the duration of your pregnancy, causing your baby to be born prematurely.
Lack of amniotic fluid
During pregnancy, a clear yellowish fluid (amniotic fluid) surrounds the fetus. This fluid provides protection and space for the embryo to grow by creating a barrier between the uterine wall and the embryo. A fetus with Potter syndrome does not have enough amniotic fluid around it and the pressure of the uterine wall affects the development of the fetus.
Facial and physical features
The pressure from the lack of amniotic fluid can affect the development of fetal organs. This causes distinctive facial features, known as the “potter look”, which include:
1. A chin that does not extend forward (sunken chin).
2. Crease under the lower lip.
3. The eyes are spread far and wide.
4. Flat bridge of the nose.
5. Low set ears with a small amount of cartilage.
6. The skin folds at the corner of the eyes get folded.
Stress can also affect the development of other parts of the fetus, including:
1. Small hands and feet.
2. Shrinkage in joints or difficulty in fully expanding them.
3. Small for gestational age.
Underdeveloped or deformed limbs
Symptoms affecting organs can be life threatening. Because Potter syndrome targets fetal development, internal organs do not receive instructions or time to fully form. Symptoms of Potter syndrome affecting the organs include the following: –
1. Congenital heart problems.
2. Eye problems (cataracts, displaced lenses).
3. Kidney problems (chronic kidney failure, agenesis, polycystic kidney disease).
4. Lung problems (chronic lung disease, respiratory distress).
Abnormal kidney development can affect how much urine a newborn baby can produce. This is a symptom that healthcare providers look for to diagnose Potter syndrome.
What causes Potter syndrome?
Many factors can cause Potter syndrome, including:
1. Underdeveloped or missing kidney.
2. Polycystic kidney disease.
3. Prune belly syndrome (Eagle-Barrett syndrome).
4. Obstruction in the urinary tract.
5. Leakage of amniotic fluid due to rupture of membranes.
6. Unmanaged medical conditions in the birth parents, such as type 1 diabetes.
Symptoms, especially those affecting the kidneys, are the result of too little amniotic fluid surrounding the baby in the uterus.
What are the reasons for too little amniotic fluid in the uterus?
Due to abnormal development of the kidneys, the amniotic fluid in the uterus becomes very less.
During pregnancy, your baby swims in a clear yellow fluid called amniotic fluid. This fluid protects your baby during pregnancy and allows it to grow. Early in your pregnancy, amniotic fluid is made up of your body’s water and nutrients. Your baby drinks amniotic fluid during pregnancy. Between 16 and 20 weeks, your baby contributes to amniotic fluid by urinating. Your baby recycles fluid by drinking and releasing it.
If your child has Potter syndrome, the part of their body that makes urine (the kidneys) has not developed properly, is absent, or is not working. Since your baby is unable to urinate, they are not able to contribute to the amount of amniotic fluid protecting them, leading to very little amniotic fluid in the uterus.
What are the different types of Potter syndrome? What are the Different Types of Potter Syndrome?
Doctors recognize different types of Potter syndrome based on the symptoms that affect the kidneys, including:
1. Classic Potter syndrome:- Classic Potter syndrome is the most common and results in a baby being born without both kidneys.
2. Potter syndrome type I: Type I symptoms are caused by polycystic kidney disease, where cysts form on the kidneys, with traits coming from both parents (autosomal recessive). Are.
3. Potter syndrome type II:- Symptoms of type II are the result of kidney growth abnormalities that occur in utero during pregnancy.
4. Potter syndrome type III:- Type III symptoms are caused by polycystic kidney disease similar to Type I, but the symptoms are passed on from only one parent (autosomal dominant).
5. Potter syndrome type IV:- Symptoms of type IV are the result of blockage in the urinary tract due to abnormal fetal development in the uterus (obstructive uropathy).
How is Potter syndrome diagnosed? How is Potter syndrome diagnosed?
Potter syndrome can be diagnosed during pregnancy by prenatal testing. One sign of the condition during pregnancy is a lack of amniotic fluid around the fetus, which your provider will notice during an ultrasound along with contractions or physical signs of the condition.
If the baby is not diagnosed before birth, your provider will perform a physical examination of your baby, looking for signs of the condition:
1. Minimal urine output.
2. Facial features.
3. Difficulty in breathing (shortness of breath).
Which tests diagnose Potter syndrome? Which tests diagnose Potter syndrome?
Your provider will offer several tests to confirm the diagnosis, including:
1. A genetic blood test to identify the genes responsible for the symptoms.
2. Imaging tests such as X-ray of the urinary tract, MRI or ultrasound of your child’s lungs, kidneys and urinary tract.
3. Blood or urine tests to check electrolyte and enzyme levels.
4. An echocardiogram to look for heart symptoms.
How is Potter syndrome treated?
Treatment of Potter syndrome depends on the severity of the lung and heart complications (pulmonary hypoplasia) associated with the condition affecting your child. It also depends on the options available to support your child’s kidney function.
Your growing fetus must be surrounded by amniotic fluid for adequate lung development during your pregnancy. If your baby’s chest is obstructed for a long period of fetal development, there may not be enough lung tissue to sustain life after birth. Treating complete loss of kidney function in a newborn baby is also very challenging. In some cases, neonatal palliative care measures that limit intensive care interventions and instead focus on the goals of infant-parent bonding and infant comfort are a treatment option.
If your baby survives birth, treatment focuses on preventing life-threatening symptoms, which may include:
1. Using breathing support devices (ventilators).
2. Adjunctive medication to aid lung function.
3. Surgery to repair or remove a urinary tract blockage.
4. IV nutrition therapy, surgery to improve feeding with a nasogastric tube or feeding tube.
Dialysis to remove blood toxins caused by kidney abnormalities. If dialysis is not successful after a few years of treatment, your provider may recommend a kidney transplant.
Depending on the timing of your baby’s diagnosis, treatment may begin during pregnancy. You may qualify for tests like amnioinfusion to add fluid to your amniotic cavity to make up for the loss of fluid around your baby. This type of treatment works best before 22 weeks of pregnancy.
How can I prevent Potter syndrome?
There is no way to prevent Potter syndrome.
Note, do not take any medicine without doctor’s advice. Self-medication is life-threatening and can lead to serious medical conditions.