Taking care of infants with Potter syndrome has its own unique challenges. However, with the right, timely care and specialised interventions, their survival can be greatly improved. It requires the right approach, along with the support from healthcare providers. This article aims to develop these ideas further. 

These include:

• Using a breathing assistance device like a ventilator
• Medicine to help improve lung function

Surgery to fix or remove the blockage in the urinary tract

• Placing the baby on intravenous nutrition therapy
• Dialysis to remove blood toxins caused by the abnormality of the kidney

There is much more to consider when caring for these infants with Potter syndrome, from the point when diagnosed and longer term. 

Definition of Potter syndrome 

Potter syndrome is a rare condition that affects the growth and function of the kidneys during foetal development. As kidney function is impaired, the amount of urine that is produced decreases. Foetal urine is one of the key contributors to amniotic fluid volume; therefore, the decreased amount of urine produced leads to a lower amount of amniotic fluid (oligohydramnios). Amniotic fluid is a water-like, clear to yellow fluid that surrounds and protects the infant during pregnancy. It plays an instrumental role in the development of the foetus, as it acts as a shock absorber, cushioning the baby from its and mum's movements. It also helps in the development of the foetus's lungs and the digestive system, as the foetus breathes in and swallows this fluid. Doing so would allow the air sacs in the lungs to expand, aiding in their growth, while hormones, nutrients and antibodies present in the amniotic fluid help in the maturation of the digestive tract.

Therefore, without enough amniotic fluid, an infant may be born with small and or underdeveloped lungs, making it much harder for them to breathe and potentially compromising their survival.²

Causes and risk factors

There are various causes for Potter syndrome. The most common cause for this condition is due to the underlying kidney issues, which can be inherited by the offspring from the parents. Sometimes, this can be caused by another pathology, such as an undetected and early rupture of the amniotic membranes, leading to a gradual loss of amniotic fluid. Rarely, a child may be diagnosed with Potter syndrome sporadically, without any known cause.

Causes of too little amniotic fluid in the uterus

During pregnancy, the baby floats in a clear to yellow fluid called amniotic fluid. The fluid helps to protect the baby during the period of growth in the womb. When the pregnancy is still early, the amniotic fluid is made up of water and nutrients from the body of the mother. The baby drinks the amniotic fluid during pregnancy. Between weeks 16-20, the baby contributes to the amniotic fluid by urination. The baby recycles the liquid by taking it in and releasing it. If a baby has Potter syndrome, their kidneys are not properly developed, are absent or are not functioning well. Due to the inability to urinate, they are not able to contribute to the amount of amniotic fluid that protects them; thus decreasing the amount of amniotic fluid in the womb. 

Potter syndrome is usually fatal during the first few days after the child is born, often due to the pulmonary failure.³ In a group of 23 babies who had very little amniotic fluid and small lungs, it has been reported that 70% of them survived.³

The primary diseases associated here are linked to problems with their kidneys or urinary system such as:

• Obstructive uropathy (a blocked urine flow)
• Polycystic kidney disease
• Enal tubular dysplasia

In babies where Potter syndrome is milder, they still face serious health problems after birth,especially in their first days or weeks of life. These complications include: breathing failure, collapsed lung and kidney problems. Because of these issues, these babies need special care in a neonatal unit for close monitoring. 

Clinical presentation of potter syndrome

The symptoms of this disease affect each newborn differently and differ in severity. The symptoms can affect the duration of pregnancy, which could cause premature delivery. 

 The pressure from the lack of amniotic fluid affects how parts of the fetus develop. These cause “potter facies”- a distinct facial characteristic including:

• chin that does not grow forward
• crease below the lower lip
• eyes spaced far apart
• flat bridge of the nose
• low-set ears with a small amount of cartilage
• skin folds at the corners of the eyes

This pressure can also affect how other parts of the fetus grow, including short arms and legs, difficulty fully extending joints, too small for a gestational age.

Underdeveloped or malformed organs affecting the heart, eyes, kidneys and lungs.

They include:

• Eyes - cataract, haemorrhage, lens displacement³
• Heart - congenital heart conditions like ventricular septal defect, endocardial cushion defect, etc
• Kidney - Chronic kidney failure, polycystic kidney disease
• Lung- respiratory distress, chronic lung disease

Immediate postnatal interventions 

Assessment of the renal function and respiratory status of babies born with Potter syndrome must be carried out. The gastrointestinal, cardiovascular and musculoskeletal system related problems should be checked. Once the possibility of long-term survival is determined, plans for resuscitation and management should be addressed.¹

The interventions depend on the severity of lung and heart complications that are associated with the condition affecting the child. After the child is born, management focuses on preventing life-threatening symptoms that could include:

• Using a breathing assistance (mechanical ventilation)
• Resuscitation may also be necessary but this should be done in close consultation with the parents, physicians and entire medical team⁴
• The glomerular filtration rate when calculated can be used to study the functioning of the kidney
• Adequate nutrition like passing food through the nose (nasogastric feeding) may be required
• Lack of essential nutrients and vitamins low calcium levels can be treated with medications like calcium carbonate and vitamin D
• Anaemia is treated with iron stimulating agents which could either be oral or parenteral
• Because of the fluids or activation of the renin-angiotensin-aldosterone system, children may have hypertension. Therefore, antihypertensives may be given (these include diuretics, beta blockers, calcium channel blockers and angiotensin converting enzyme inhibitors)
• Growth boosters indicated for children may be used for those with a low glomerular filtration rate, who do not grow at a healthy pace

Supportive care strategies 

There is a need for adjusting diet for these children. During renal failure, appropriate restriction of fluid is advised. Adequate protein and caloric intake is recommended.¹ Excessive salt must be avoided in children with hypertension. No restriction of physical activity is needed for children who survive the neonatal period. 

A close follow-up with a paediatric nephrologist is very necessary. Careful monitoring of the renal and respiratory function is required. The child should be monitored for the potential adverse effects of the medication taken.

FAQs

What causes Potter syndrome?

Potter syndrome is caused by a prolonged little amniotic fluid around the baby during pregnancy, usually due to kidney abnormalities like absence of kidneys and other organs.

Can a baby survive Potter syndrome?

In most cases, Potter syndrome is fatal shortly after birth. However, survival is possible in rare cases with partial renal function and aggressive medical intervention.

Is Potter syndrome detectable during pregnancy?

Yes, it is often detected with a prenatal ultrasound that shows that the amniotic fluid is reduced and there is an absence of fetal kidneys or bladder.

Summary 

Caring for infants with Potter syndrome needs the coming together of different disciplines so it can be appropriately managed. Although the survival rate is poor, especially when there are no kidneys, timely postnatal interventions can help to improve the quality of life. These interventions are: respiratory support, fluid management, dialysis and nutritional care.