Potter Syndrome

What is Potter Syndrome?

Potter syndrome is a severe birth defect that affects a baby’s appearance because of a condition called oligohydramnios, which happens when there isn’t enough amniotic fluid surrounding the baby in the womb. This lack of amniotic fluid is caused by the baby’s kidneys not developing properly or not working. Potter syndrome is considered to be a fatal condition as it causes the underdevelopment of the baby’s lungs, leading to breathing problems within an hour after birth.

You might also hear this condition referred to as Potter sequence. Although the two terms are often used interchangeably, Potter sequence more accurately describes a decrease in amniotic fluid, no matter what the cause is.

Potter syndrome occurring in multiple births, such as twins, is very rare. In some cases, one twin might show other health problems aside from underdeveloped kidneys, while the other twin has normal lung function.

Potter syndrome is classified based on what caused the kidney problem. The most common form of Potter syndrome happens when a baby is born without both kidneys. There are other subtypes as well: subtype I is linked to a genetic condition called autosomal recessive polycystic kidney disease, subtype II is due to kidney malformation, subtype III is related to a genetic condition called autosomal dominant polycystic kidney disease, and subtype IV occurs when there is an obstruction in the tube that carries urine from the kidney to the bladder, leading to a condition called hydronephrosis.

What Causes Potter Syndrome?

Potter syndrome is a condition that can be inherited in several ways. It can be passed down through families where each parent has a copy of the faulty gene (recessive), from one parent (dominant), or it can sometimes occur randomly (sporadic). The dominant form, where only one parent needs to have the faulty gene, tends to be the most severe.

This condition occurs due to issues with certain factors needed for our bodies to grow healthily, which can prevent initial formation of urine carrying tubes (ureteric buds) from a type of embryonic tissue (mesonephric tissue).

The most common cause of Potter syndrome is a condition called bilateral renal agenesis, where a baby is born without both kidneys. This leads to a shortage of amniotic fluid (oligohydramnios). Other potential causes could be obstructions of the urinary system, kidney diseases like polycystic kidney disease, underdevelopment of the kidney (renal hypoplasia), or premature rupture of membranes during pregnancy.

Risk Factors and Frequency for Potter Syndrome

Potter syndrome is a relatively rare condition that occurs in roughly 1 out of every 2000 to 5000 births. It’s more common in males than in females. The condition is most often seen in women who are pregnant for the first time and are between the ages of 20 to 30 years old.

Signs and Symptoms of Potter Syndrome

Prenatal checkups and screenings are on the rise these days. Some of the findings that can stand out during these screenings include low levels of amniotic fluid, missing kidneys, and kidney expansion or other abnormalities. If a newborn passes little or no urine within the first 48 hours of life, it might point to kidney malformations or blocked urine flow. Shortness of breath, rapid breathing, or pauses in breathing could indicate that the lungs didn’t develop properly due to the absence of a kidney. There could also be reduced urine flow due to obstructions in the urinary tract. It’s noteworthy that about 35% of cases with missing kidneys on both sides have a family history of this condition.

During a physical examination, newborns can show certain features. These can include distinctive facial characteristics (known as Potter’s facies), which involve folding skin around the inner corners of the eyes, low-set ears, a flat nose due to pressure from the uterus, and a small chin. There might also be abnormalities in the limbs (like strange positioning, hip dislocation, short lower limbs, and clubbed feet), missing anal opening, unusual spinal conditions like half-formed vertebrae and missing sacrum. The level of improper lung development depends on the stage of lung development and the amount and period of low amniotic fluid.

Signs of breathing difficulties can include changes in skin color, flaring nostrils, grunting sounds, chest retracting, and wheezing. There may also be certain symptoms of the Eagle-Barrett (prune belly) syndrome, such as clear defects in the abdominal wall, expanded kidney pelvis and ureters, and undescended testis in boys. Some children might also show eye malformations like cataracts, bleeding, lens displacement, and an abundance of blood vessels in the optic disc. Heart defects such as a hole in the wall between the heart chambers, a group of four heart defects occurring together (tetralogy of Fallot), or a persistently open vessel that typically closes after birth (patent ductus arteriosus), may be seen in rare cases.

Testing for Potter Syndrome

Potter syndrome is associated with certain physical abnormalities, particularly in the face and lungs. The most definitive way to diagnose Potter syndrome is by identifying the lack of both kidneys.

Ultrasonography, specifically prenatal abdominal and transvaginal, is the primary method to accurately evaluate the absence of kidneys. This means if the ultrasound does not show a urinary bladder and kidneys, it indicates the kidneys are missing. Also, an ultrasound can sometimes show adrenal glands with a different shape and size than usual. Initially, it may be tough to tell these adrenal glands apart from kidneys, but with expertise, they can be distinguished. Apart from this, an ultrasound might spot other issues, such as oddly-shaped kidneys or blockages in the urinary ducts. A type of ultrasound called color Doppler imaging can help see poor blood vessel development in lungs and kidneys that are smaller than they should be. Another key sign of missing kidneys is not being able to see the renal arteries, the vessels that supply blood to the kidneys, during color Doppler imaging.

In addition to ultrasonography, other imaging techniques can be helpful. For instance, if the ultrasound results are unclear, an antenatal magnetic resonance imaging (MRI) might be used to better define any kidney problems. If less amniotic fluid is present than normal, a procedure called amnioinfusion can help visualize the baby better. Chest X-rays can help spot lung hypoplasia (underdevelopment) and hemothorax (blood in the chest cavity). A machine called cardiotocograph helps find any congenital heart defects by monitoring the fetal heart rate.

Laboratory tests are also important in diagnosing suspected Potter syndrome. Abnormal levels of electrolytes – minerals like sodium, potassium and calcium—could suggest kidney failure. Urine tests might show blood or excess protein, indicating kidney issues. But the best indicator of kidney function is the blood creatinine level—a chemical waste product that’s filtered out of the blood by the kidneys. A chromosomal analysis may be advised if there are physical indications of chromosomal conditions such as Trisomy 7 or 13. Autopsy is done only in infants who are already deceased.

Amniocentesis, a procedure that samples the amniotic fluid surrounding the baby, can be performed if necessary. Regular prenatal checks and monitoring of the volume of amniotic fluid are important for early diagnosis of low amniotic fluid levels, and to prevent potential complications.

Treatment Options for Potter Syndrome

Assessing kidney and lung function is crucial for providing immediate medical care. Doctors must devise a care plan based on any additional health problems tied to the heart, digestive tract, and musculoskeletal (muscles and bones) systems. Early diagnosis of these conditions before birth can circumvent the need for cesarean section delivery.

If a child has kidney failure, they might have imbalances in substances called electrolytes in their blood. These imbalances might include low or high sodium, low potassium, or low calcium levels, for instance. To address this, doctors can use methods such as administering calcium carbonate to treat abnormalities in calcium and phosphate levels, two types of electrolytes that help maintain the body’s balance and functionality. Lack of a hormone called erythropoietin, which leads to anemia (a low red blood cell count), can be treated with iron and medicines that stimulate the body to produce more erythropoietin.

Some children with kidney failure can have high blood pressure due to the activation of a body system called the renin-angiotensin system. This condition can be treated with a variety of medications that help control blood pressure such as diuretics (which help the body get rid of excess water and salt), angiotensin-converting enzyme (ACE) inhibitors, and beta-blockers. In some cases, doctors might prescribe growth hormone supplements for children whose growth is lagging. They might also recommend a nasogastric feeding—inserting a tube from the nose to the stomach—to make sure the child gets adequate nutrition.

On the other hand, some newborns might have underdeveloped lungs (known as pulmonary hypoplasia) that can cause trouble breathing. These infants might need mechanical ventilation, which helps them breathe using a machine. They might also need additional oxygen, but their oxygen saturation—the amount of oxygen in their blood—should remain within the range of 90-95%.

There may also be situations where the structure of the urinary and kidney systems necessitates surgery. For example, severe kidney failure might require methods of filtering the blood like peritoneal or central venous line dialysis. If the child’s urinary system has an obstructive issue such as a posterior urethral valve, doing a valve ablation or vesicostomy—procedures to help the urine flow more easily—can lessen the strain on the kidneys and help improve the kidney function. In extreme cases where the kidney(s) is too large and full of cysts, kidney removal (nephrectomy) and transplantation might be needed.

After such treatments, it’s important for children to be regularly checked for their kidney and lung functions and to monitor the effects of their medications. Genetic counseling may be suggested as the disease is often hereditary and cannot be prevented. For families with a history of missing or irregular kidney formation and any related health problems, doctors will advise regular ultrasound check-ups in future pregnancies and for close relatives. Skilled and thoughtful counseling should be provided to pregnant women about the management of bilateral renal agenesis, a condition in which both kidneys fail to develop.

Potter Syndrome, a rare condition characterized by the absence or malformation of the kidneys before birth, can have multiple potential causes. These may also include just as many conditions that may display symptoms similar to Potter Syndrome. Here is a simplified explanation of some of these:

Bilateral Renal Agenesis (Mayer-Rokitansky-Kuster-Hauser Syndrome): This is the primary cause of Potter syndrome. But sometimes, this condition doesn’t result in Potter syndrome. It is associated with anomalies in the uterus and other urinary or genital dysfunctions.
Multicystic Renal Dysplasia: This condition involves the formation of multiple non-communicating cysts in the kidneys. The affected kidney tissue can be recognized in between the cysts. It’s one of the causes of Potter sequence. Kidney malfunction and low urine output due to multiple cysts can lead to too little amniotic fluid around the baby (oligohydramnios).
Polycystic Kidney Disease: This condition consists of many cysts ina large kidney with little or no normal tissue in between. It can be inherited and causes kidney failure, leading to too little amniotic fluid that resembles Potter syndrome.
Posterior Urethral Valves: The presence of these valves can block the flow of urine, which prevents the contribution of amniotic fluid.
Prune Belly Syndrome: Typically found in boys, it associates with abnormal abdominal wall, skeletal, and kidney anomalies, along with a dilated urinary bladder. Other genital malformations like undescended testicles (cryptorchidism) might also be present.
Sirenomelia: This is a rare disorder characterized by deformities in the lower part of the body and pelvic anomalies. It can also cause too little amniotic fluid due to lack of both kidneys, leading to best ways to identify sirenomelia.
Ectopic Kidney: Patients having a kidney in an abnormal location might show signs similar to an ultrasonographic study of Potter syndrome.
Melnick-Fraser Syndrome: This syndrome features kidney malformation and other symptoms like pits near the ear, ear malformations, and tubes that form from an unnatural opening in the neck (branchial fistula)
Fraser Syndrome: This is an inherited condition characterized by kidney agenesis, a closed or absent windpipe, fused fingers or toes (syndactyly), and eyelids that are fused together (cryptophthalmos).

What to expect with Potter Syndrome

Potter syndrome, unfortunately, leads to a dismal outcome. Babies with this condition are either born stillborn, which means they’re dead at birth, or they die shortly after being born. Babies with underdeveloped lungs are especially at risk and sadly, these infants usually pass away from severe breathing problems within hours or days of their birth.

However, improvements have been seen in a study conducted at John Hopkins Hospital where regular injections of saline (a saltwater solution) into the womb of the mother improved the development of the baby’s lungs. Despite this improvement, an individual with this condition would still need to be on dialysis (a treatment that performs the function of the kidneys) their whole life.

The prognosis, or the likely course of the disease, is influenced by several factors such as the age of the unborn baby at the time of diagnosis, as well as the type and location of associated structural abnormalities. It’s worth mentioning that the survival rate is generally higher in cases of Potter syndrome caused by factors other than having both kidneys missing at birth (bilateral renal agenesis).

If no interventions are carried out during pregnancy, the death rate for newborns with this condition is unfortunately 100%.

Possible Complications When Diagnosed with Potter Syndrome

Kidney problems are a main issue in Potter syndrome. This can lead to imbalances in essential body salts and minerals such as low sodium, high sodium, high potassium, low calcium, and high phosphorus as a result of kidney failure. Urine problems can increase the risk of urinary tract infections and a condition called hydronephrosis, which is swelling of the kidneys. Problems with renal tubules, structures within the kidneys, can result in various issues including anemia due to lack of a hormone called erythropoietin, vitamin D insufficiency and disruption of the renin-angiotensin system, a hormone system that helps to regulate blood pressure and fluid balance.

Potter syndrome is often linked with underdeveloped lungs leading to lung insufficiency and a serious condition known as respiratory distress syndrome. Babies with these conditions often have blue-ish skin due to lack of oxygen (cyanotic) and may suffer from a condition called respiratory acidosis, resultant from excessive carbon dioxide and problems with airflow within the lungs.

Babies with Potter syndrome also often have physical deformities. This is due to insufficient amniotic fluid, which hinders proper fetal movement and development of body parts. It can also be due to the uterus compressing the fetus, resulting in deformities of the face and extremities. Genital abnormalities are present in up to 70% of cases. Other congenital heart defects, pancreatic cysts, abnormal closure of the esophagus, intestinal abnormalities, absence of the colon, and a small bulge in the small intestine called Meckel diverticulum may be present. Subtype II of Potter syndrome is associated with liver fibrosis and abnormalities in the bile ducts. Multiple pregnancies with Potter syndrome have been reported, and complications may include slow growth within the womb, early labor, and a condition known as preeclampsia.

Potter Syndrome related issues:

Major kidney problems
Imbalances in essential body salts and minerals
Increased risk of urinary tract infections and kidney swelling
Anemia and vitamin D insufficiency
Underdeveloped lungs and related respiratory issues
Physical deformities, particularly of the face and extremities
Potential genital abnormalities
Other congenital abnormalities
Complications in multiple pregnancies

Preventing Potter Syndrome

Potter syndrome is a genetically inherited disease that babies have from birth and it unfortunately has a poor prognosis, leading to multiple health issues. It often causes emotional distress within the family, particularly for the mother. Therefore, counseling for family members plays a crucial part in managing stress after the baby is born. Families should be informed ahead of time about the challenges they might face and the treatments that could be beneficial.

Patients should be given information about the disease itself and how it affects the person’s health in a way that they can understand. This helps in creating a stronger bond between the doctor and the patient and makes the process easier for patients who have been properly educated and counseled before giving birth.

For all birth defects, including Potter syndrome, screening before birth (known as antenatal screening) is advised. This can help reduce possible complications for both mom and baby. It’s also very important to educate about the chances of the disease happening again in future children.

Frequently asked questions

Potter Syndrome is a severe birth defect that affects a baby's appearance due to a condition called oligohydramnios, which is caused by the baby's kidneys not developing properly or not working. It is considered a fatal condition as it leads to underdevelopment of the baby's lungs and breathing problems shortly after birth.

Potter syndrome occurs in roughly 1 out of every 2000 to 5000 births.

Signs and symptoms of Potter Syndrome include: - Distinctive facial characteristics, such as folding skin around the inner corners of the eyes (Potter's facies) - Low-set ears - Flat nose due to pressure from the uterus - Small chin - Abnormalities in the limbs, including strange positioning, hip dislocation, short lower limbs, and clubbed feet - Missing anal opening - Unusual spinal conditions, such as half-formed vertebrae and missing sacrum - Improper lung development, which can vary depending on the stage of lung development and the amount and period of low amniotic fluid It's important to note that Potter Syndrome can have varying degrees of severity and not all of these signs and symptoms may be present in every case.

Potter syndrome can be inherited in several ways, including through families where each parent has a copy of the faulty gene (recessive), from one parent (dominant), or it can sometimes occur randomly (sporadic). The dominant form, where only one parent needs to have the faulty gene, tends to be the most severe.

The doctor needs to rule out the following conditions when diagnosing Potter Syndrome: 1. Bilateral Renal Agenesis (Mayer-Rokitansky-Kuster-Hauser Syndrome) 2. Multicystic Renal Dysplasia 3. Polycystic Kidney Disease 4. Posterior Urethral Valves 5. Prune Belly Syndrome 6. Sirenomelia 7. Ectopic Kidney 8. Melnick-Fraser Syndrome 9. Fraser Syndrome

The types of tests that are needed for Potter Syndrome include: 1. Ultrasonography: Prenatal abdominal and transvaginal ultrasound to evaluate the absence of kidneys, urinary bladder, and any abnormalities in the shape or size of the adrenal glands, kidneys, or urinary ducts. Color Doppler imaging can also be used to assess blood vessel development in the lungs and kidneys. 2. Antenatal magnetic resonance imaging (MRI): Used to further define any kidney problems if the ultrasound results are unclear. 3. Chest X-rays: To identify lung hypoplasia and hemothorax. 4. Cardiotocograph: Monitors the fetal heart rate to detect any congenital heart defects. 5. Laboratory tests: Including blood tests to assess electrolyte levels, urine tests to check for blood or excess protein, and blood creatinine level to evaluate kidney function. Chromosomal analysis may also be advised if there are physical indications of chromosomal conditions. 6. Amniocentesis: A procedure to sample the amniotic fluid surrounding the baby, which can be performed if necessary. 7. Autopsy: Done only in infants who are already deceased. 8. Additional imaging techniques or surgeries may be required depending on the specific conditions and complications associated with Potter Syndrome, such as peritoneal or central venous line dialysis, valve ablation or vesicostomy, nephrectomy, and transplantation. Regular check-ups and monitoring of kidney and lung functions, as well as genetic counseling, are also important for managing Potter Syndrome.

Potter Syndrome, also known as bilateral renal agenesis, is a condition in which both kidneys fail to develop. The treatment for Potter Syndrome involves managing the associated health problems and providing supportive care. This may include regular ultrasound check-ups during future pregnancies and for close relatives with a history of missing or irregular kidney formation. In severe cases, where the kidneys are too large and full of cysts, kidney removal (nephrectomy) and transplantation might be necessary. Additionally, genetic counseling may be suggested as the condition is often hereditary and cannot be prevented. Skilled and thoughtful counseling should be provided to pregnant women about the management of bilateral renal agenesis.

When treating Potter Syndrome, there can be several side effects and complications. These include: - Imbalances in essential body salts and minerals, such as low sodium, high sodium, high potassium, low calcium, and high phosphorus levels due to kidney failure. - Increased risk of urinary tract infections and kidney swelling (hydronephrosis). - Anemia and vitamin D insufficiency due to problems with renal tubules and lack of erythropoietin hormone. - Underdeveloped lungs leading to lung insufficiency and respiratory distress syndrome. - Physical deformities, particularly of the face and extremities, due to insufficient amniotic fluid and compression of the fetus. - Potential genital abnormalities, which are present in up to 70% of cases. - Other congenital abnormalities, including congenital heart defects, pancreatic cysts, abnormal closure of the esophagus, intestinal abnormalities, absence of the colon, and Meckel diverticulum. - Complications in multiple pregnancies, such as slow growth within the womb, early labor, and preeclampsia.

The prognosis for Potter Syndrome is generally poor. Babies with this condition are either stillborn or die shortly after birth due to severe breathing problems caused by underdeveloped lungs. The survival rate is generally higher in cases where the condition is caused by factors other than both kidneys missing at birth.

A pediatric nephrologist or a geneticist would be appropriate doctors to see for Potter Syndrome.