Introduction
Babies can be born with problems in their urinary system. These issues affect about 1 in 500 newborns. Doctors can spot some during pregnancy with ultrasounds. Others only show up after birth or when the child is older.
The urinary system includes the kidneys, ureters, bladder, and urethra. It removes waste from the blood and controls fluid balance in the body. When this system doesn’t grow right during pregnancy, various problems can occur.
This article covers common urinary birth defects, what causes them, their signs, how doctors find them, treatment options, and what to expect long-term.
Types of Urinary Birth Defects
Kidney Problems
Missing Kidneys
Some babies are born missing one or both kidneys:
- One kidney missing: This happens in about 1 in 1,000 births. Most people with one kidney live normal lives. The single kidney grows larger to do the work of two.
- Both kidneys missing: This rare problem occurs in about 1 in 4,000 births. Sadly, it’s fatal because kidneys are needed for life.
Poorly Formed Kidneys
In this case, the kidney tissue doesn’t form correctly. The affected kidney has odd structures and cysts instead of normal tissue. It can affect part or all of one or both kidneys.
Dr. Maria Chen, a kidney doctor for children, explains: “Some kids have mild cases that need little treatment. Others have severe cases that greatly affect kidney function and need intense care.”
Polycystic Kidney Disease (PKD)
PKD creates many fluid-filled sacs in the kidneys. There are two main types:
- Adult-onset PKD: Usually shows up in adults but can appear in childhood.
- Childhood PKD: A more serious form that appears in babies or young children. About 30% of babies with this type die shortly after birth due to breathing problems.
Horseshoe Kidney
This happens when the bottom parts of both kidneys join during growth in the womb. It creates a U-shaped organ. About 1 in 500 people have this, and it’s more common in boys. Many people with horseshoe kidneys have no symptoms, though they may get more UTIs and kidney stones.
Ureter Problems
Blocked Connection Between Kidney and Ureter
This blockage stops urine from flowing from the kidney to the bladder. It’s the main cause of kidney swelling in newborns, affecting about 1 in 1,500 births.
Balloon-like Bulge in the Ureter
This bulge can block urine flow. It often happens when there are two ureters draining one kidney.
Backward Flow of Urine
This is when urine flows back up from the bladder to the ureters and sometimes to the kidneys. It affects about 1% of children and is more common in girls. It can lead to UTIs that might damage the kidneys if not treated.
Bladder and Urethra Problems
Valve-like Blockages in Boys
This affects only boys and involves blockages in the urethra. It occurs in about 1 in 5,000-8,000 male births. It’s the most common cause of lower urinary tract blockage in baby boys.
Bladder Outside the Body
This rare birth defect makes the bladder form outside the body. It happens in about 1 in 50,000 births and affects more boys than girls. It needs surgery soon after birth.
Opening in Wrong Place on Penis
In this common issue, the urine opening is on the underside of the penis instead of at the tip. It affects about 1 in 200-300 baby boys. How serious it is depends on where the opening is located.
Rare Opening on Top of Penis
This rare problem puts the urine opening on the top of the penis in boys or between the clitoris and labia in girls. It affects about 1 in 117,000 males and 1 in 484,000 females.
Causes and Risk Factors
The urinary system starts to form in the third week of pregnancy. This complex process continues throughout pregnancy. Several things can disrupt it:
Genetic Factors
Many urinary birth defects have genetic links:
- Gene changes: Some conditions happen due to changes in specific genes.
- Chromosome problems: Children with certain genetic conditions like Down syndrome have higher risk of urinary system issues.
- Family history: Some problems, like backward flow of urine, run in families.
Environmental Factors
Things a mother is exposed to during pregnancy may increase risk:
- Certain medicines (blood pressure drugs, seizure drugs)
- Diabetes in the mother
- Obesity in the mother
- Exposure to certain chemicals
- Drinking alcohol during pregnancy
Multiple Causes Working Together
Most urinary birth defects likely come from a mix of genetic risk and environmental factors.
Dr. Jonathan Lee, who studies how babies develop, notes: “We’re still learning how genes and environment work together to cause urinary problems. Most cases involve many factors rather than just one cause.”
Signs and Symptoms
Signs of urinary birth defects vary widely. Some children show no symptoms for years. Others have obvious problems right after birth.
Common Signs in Babies and Young Children
- Urinary tract infections (fever, smelly urine, fussiness)
- Weak urine stream or dribbling
- Trouble peeing
- Lump in the belly (may be enlarged kidneys)
- Poor growth
- Vomiting and not eating well
- Belly pain
- Blood in the urine
- Bedwetting past typical age
- High blood pressure
Warning Signs Needing Immediate Medical Care
- Severe belly or side pain
- High fever with side pain (possible kidney infection)
- Can’t pee at all
- Signs of kidney failure (less pee, swelling, extreme tiredness)
Diagnosis
Finding urinary birth defects early helps prevent problems and protect kidney function. Doctors use several methods:
During Pregnancy
Many urinary problems can be spotted during routine ultrasounds at 18-20 weeks of pregnancy. Warning signs include:
- Large kidneys
- Swollen kidney drainage system
- Unusual bladder shape
- Low amniotic fluid
- No visible kidneys
If doctors see these signs, they may recommend:
- Detailed ultrasound
- MRI of the baby
- Testing the amniotic fluid
After Birth
After birth, tests may include:
Imaging Tests
- Ultrasound: First test used to check the kidneys, ureters, and bladder.
- Special X-ray during peeing: Shows if urine flows backward or if there are blockages.
- Nuclear medicine scans: Check how well kidneys work and drain.
- CT scan: Gives detailed pictures of the urinary tract.
- MRI: Provides detailed images without radiation.
Function Tests
- Bladder tests: Check how the bladder and urethra work.
- Blood tests: Measure kidney function.
- Urine tests: Look for signs of infection or kidney damage.
Genetic Tests
Doctors may suggest genetic testing if they think the condition might be inherited.
Treatment Options
Treatment for urinary birth defects depends on the specific problem, how severe it is, and what complications exist. Care may include:
Watchful Waiting
For mild cases that might get better on their own:
- Regular check-ups: With ultrasounds and blood tests to track kidney growth and function.
- Preventive antibiotics: Low-dose antibiotics to prevent UTIs in children with higher infection risk.
- Symptom control: Managing pain or high blood pressure.
Surgery
For problems causing significant blockage or poor function:
- Fixing kidney-to-ureter connection: Repair of blockages between the kidney and ureter.
- Reimplanting the ureter: Changing how the ureter connects to the bladder to stop backward flow.
- Removing valve blockages: Taking out blockages in the urethra.
- Rebuilding surgery: For conditions like bladder outside the body or severe opening problems.
Dr. Sarah Thompson, a children’s urinary surgeon, explains: “The timing of surgery is crucial. We must weigh surgery risks against possible kidney damage if we wait. Each child needs their own treatment plan based on their specific condition and health.”
Less Invasive Procedures
- Scope treatments: Less invasive options for certain conditions.
- Robot-assisted surgery: Allows precise surgery with smaller cuts and faster healing.
Managing Complications
- Dialysis: For severe kidney problems.
- Kidney transplant: For end-stage kidney disease.
- Bladder management: Catheterization or other techniques for bladder issues.
Long-term Care and Outlook
The future for children with urinary birth defects varies greatly. It depends on the specific condition, how severe it is, when it was found, and how well treatment works.
Ongoing Care
Most children with urinary birth defects need long-term follow-up, including:
- Regular kidney function tests
- Blood pressure checks
- Periodic imaging
- Urine tests for infection or protein
- Growth and development monitoring
Possible Complications
Without proper care, some conditions may lead to:
- Worsening kidney damage
- Chronic kidney disease
- High blood pressure
- Growth problems
- Frequent urinary tract infections
- Kidney stones
- Mental and social challenges
Moving to Adult Care
As children with urinary birth defects grow up, switching to adult kidney or urinary care becomes important. This move should be planned to ensure ongoing care.
New Research and Treatments
The field continues to advance, with several promising developments:
Surgery Before Birth
For some severe blockages found during pregnancy, surgery while the baby is still in the womb may be an option. Procedures like placing a tube between the bladder and amniotic sac can potentially prevent kidney damage in carefully selected cases.
Tissue Engineering
Research into growing new tissues and using stem cells offers hope for creating replacement parts or even whole organs for children with severe urinary problems.
Better Genetic Understanding
Advances in genetic testing are helping identify specific genetic causes of many urinary birth defects. This may lead to better prediction, prevention, and targeted treatments in the future.
A recent study published in 2023 found several new genetic markers linked to urinary tract birth defects. This could open new paths for early detection and treatment.
Living with Urinary Birth Defects
Effects on Daily Life
Children with urinary birth defects may face challenges:
- Medical procedures and hospital stays
- Taking medicines regularly
- Activity limits
- Missing school
- Body image concerns (especially with visible differences)
Despite these challenges, with good support and care, most children can lead full lives.
Support for Families
Families of children with urinary birth defects can benefit from:
- Learning about the specific condition
- Joining support groups
- Counseling
- Help navigating healthcare
- School accommodations when needed
Prevention
While not all urinary birth defects can be prevented, some steps may reduce risk:
- Genetic counseling before pregnancy for families with history of urinary problems
- Good pregnancy care
- Avoiding harmful medicines, alcohol, and toxins during pregnancy
- Managing conditions like diabetes before and during pregnancy
- Taking prenatal vitamins with folic acid
Common Questions
Can children with one kidney play sports?
Most children with one working kidney can play non-contact sports. But high-contact sports like football or boxing may risk injury to the remaining kidney. Ask your child’s doctor for advice based on your child’s specific situation.
Will my child outgrow backward urine flow?
Many children with milder backward flow (grades I-III) outgrow it as the ureter naturally lengthens and its angle changes with growth. More severe cases (grades IV-V) are less likely to resolve on their own and may need surgery.
How often will my child need check-ups?
It depends on the specific condition and how severe it is. At first, visits may be every 3-6 months. As your child stabilizes, visits may drop to once or twice a year. Your child’s specialist will create a follow-up plan just for them.
Can urinary birth defects affect future fertility?
Some urinary problems, especially those affecting structures also involved in reproduction (particularly in males), may impact fertility. Early treatment can often minimize these effects. Talk with your child’s urologist about potential fertility effects as your child approaches the teen years.
Are urinary birth defects inherited?
Some urinary birth defects have genetic links and may run in families. For example, backward urine flow shows family patterns. Siblings of affected children have a 30-50% chance of also having the condition. Genetic counseling may help families with a history of urinary problems.
Conclusion
Urinary birth defects include many different conditions that can impact a child’s health and growth. Early detection, accurate diagnosis, and proper treatment are key for the best outcomes. With advances in prenatal diagnosis, surgical techniques, and medical care, the outlook for many children with these conditions continues to improve.
For families dealing with urinary birth defects, a team approach involving children’s urologists, kidney specialists, primary care doctors, nurses, and support services provides complete care. By understanding the condition and taking an active role in their child’s care plan, parents help their child achieve the best possible quality of life.