Congenital Urinary Abnormalities

What are congenital urinary abnormalities?

Congenital urinary abnormalities describe irregularities in your urinary and reproductive (genitourinary) systems. A congenital condition means it occurs during fetal development or very early in infancy. These conditions can affect the following organs:

• Kidneys. Your kidneys filter salt, water, toxins and waste products from your blood and help make urine (pee). Most people have two kidneys.
• Urinary bladder. Your bladder is a stretchy organ that holds pee.
• Ureters. Ureters are tubes of muscle that transport pee from your kidneys to your bladder.

Another name for congenital urinary abnormalities is congenital urinary anomalies.

What are the major urinary abnormalities?

Common urinary abnormalities include:

• Hydronephrosis. Hydronephrosis is a condition that causes one or both of your kidneys to swell (distend) because something prevents pee from flowing from your kidneys to your bladder.
• Undescended testicles (cryptorchidism). During pregnancy, testicles develop in your abdomen and typically drop into the sack of skin that hangs behind your penis (scrotum). Undescended testicles don’t drop into your scrotum shortly after birth.
• Hypospadias. This condition affects the urethra in a baby’s penis. The urethra is the tube that carries pee and sperm to the outside of the body. The end of the urethra is usually at the tip of the penis. But if your child has hypospadias, it develops on the underside of the penis.
• Spina bifida. This condition occurs when the brain, spinal cord and/or the membrane that surrounds the spinal cord (meninges) don’t develop completely during fetal development. Severe forms of spina bifida can cause partial or complete paralysis, which may result in neurogenic bladder along with other problems.
• Vesicoureteral reflux (VUR). Normally, pee flows from the kidneys, through the ureters, into the bladder and out of your body through the urethra. VUR causes pee to flow back up your ureters and sometimes into the kidneys.
• Bladder exstrophy. This is a rare condition in which your bladder develops inside out. A baby with bladder exstrophy releases pee through an opening in their abdomen instead of their urethra.
• Prune belly syndrome (Eagle-Barrett syndrome). Prune belly syndrome is a rare condition. The most obvious feature is that the abdominal muscles are weak or aren’t present, which causes the belly to appear wrinkly or prune-like. Other features include undescended testicles and urinary tract abnormalities.
• Posterior urethral valve (PUV). PUV affects babies that have a penis. Extra flaps of membrane in the back of the urethra block pee, which may backflow to the bladder and cause it to swell. It can also damage the ureters and kidneys.

What is the most common urinary tract abnormality?

Undescended testicles are the most common urinary tract abnormality in boys.

Vesicoureteral reflux is one of the most common urinary tract abnormalities in girls.

What are the symptoms of urinary abnormalities?

It depends on what type of urinary abnormality you have. Some conditions are painless, and a healthcare provider can only detect them with imaging tests. But some common urinary abnormality symptoms may include:

• Pain in your sides, stomach or back.
• Pain or a burning feeling while peeing (dysuria).
• Pee that doesn’t spray in a straight stream.
• Peeing more or less than usual.
• Blood in your pee (hematuria).
• Nausea and vomiting.
• Hernia.
• Urinary tract infections (UTIs).
• Not growing as expected.

What causes urinary abnormalities?

It’s complicated. But urinary abnormality causes are probably a combination of environmental factors and genetic mutations. Environmental factors may include:

• The mother has diabetes.
• A lack of certain vitamins or minerals during pregnancy, including folate and iron.
• Certain medications that can damage the kidneys, including antiseizure medications.

The most common genetic mutations that are associated with urinary abnormalities include the PAX2 and HNF1B genes. These genes help create the kidneys, urinary tract and other tissues as a fetus develops.

Who do urinary abnormalities affect?

A baby may have a greater chance of having a urinary abnormality if there’s a biological family history of kidney or urinary tract problems.

How do you diagnose urinary abnormalities?

Healthcare providers usually diagnose congenital urinary abnormalities during prenatal ultrasounds. Prenatal ultrasounds use sound waves to check the health and development of a fetus and detect problems, such as a lack of amniotic fluid (oligohydramnios). During typical development, pee makes up most of the amniotic fluid after about 20 weeks of pregnancy. A healthcare provider may suspect a urinary problem if you don’t have enough amniotic fluid during pregnancy.

If a provider doesn’t diagnose a urinary abnormality before birth, they may suspect one during infancy or childhood according to your child’s symptoms. They can confirm a urinary abnormality with testing, including:

• Ultrasound. An ultrasound is a noninvasive imaging test that takes images or video of your organs and tissues.
• Urinalysis (urine test). A urinalysis can confirm an infection.
• Blood tests. A blood test can help determine how well your kidneys filter blood (estimated glomerular filtration rate).
• CT (computed tomography) scan. A CT scan is a noninvasive imaging test. It takes many X-rays to create detailed images of the bones and tissues in your body.
• Magnetic resonance imaging (MRI). An MRI is a noninvasive imaging test. It uses a magnet, radio waves and a computer to create detailed images of your organs and other structures in your body.
• Voiding cystourethrogram (VCUG). A VCUG is an imaging test that takes detailed images of your bladder while it’s filling and emptying.
• Renal scan (kidney scan). A renal scan is a type of nuclear medicine imaging. A provider injects a small amount of radioactive material into your kidneys to help take detailed images.
• Urodynamic testing. This is a catheter test that determines how well your bladder functions.

How are urinary abnormalities treated?

It depends on the type of urinary abnormality. Some conditions may not require treatment. Other conditions may require a range of treatments, including:

• Antibiotics.
• Dialysis.
• Kidney transplant.

Depending on the condition, a medical team will review your child’s medical history, evaluate the present condition and tailor the best healthcare plan for their needs.

Can urinary abnormalities be prevented?

You can’t prevent all urinary abnormalities. But you can promote a healthy pregnancy by:

• Scheduling and attending regular appointments with a healthcare provider.
• Talking to a healthcare provider about what medications and supplements you’re taking.
• Taking a daily prenatal vitamin that contains at least 400 mcg of folic acid.
• Avoiding alcohol, tobacco and any drugs that a provider hasn’t prescribed.

What can I expect if my child has a congenital urinary abnormality?

The outlook depends on the type of urinary abnormality and extent of the symptoms. Some children may require regular medical monitoring for the rest of their lives. Your child’s care team will work with you to develop an individual plan that helps your child lead a safe, healthy and independent life.

As your child gets older, they may encounter health and quality-of-life issues, including urinary and bowel incontinence, UTIs and damage to their bladder, kidneys and/or ureters. Severe kidney damage may cause kidney failure. Kidney failure treatment may require dialysis or a kidney transplant. Their condition may also affect the function and appearance of their genitals, which may affect their ability to conceive a biological child (fertility).

Congenital urinary abnormalities can also affect your child psychosocially (how other people affect their thoughts and emotions) and psychologically (how your child thinks about themselves). Your child’s care team can provide support and help make the transition to adolescence and adulthood less stressful.

When should my child see a healthcare provider?

Schedule regular appointments with your child’s healthcare provider. They’ll monitor your child throughout infancy, childhood, adolescence and into adulthood.

When should I go to the ER?

Go to the nearest emergency room if your child has a urinary abnormality and has symptoms such as:

• Sudden or intense pain in their stomach, back or sides.
• A fever higher than 100.5 degrees Fahrenheit (38 degrees Celsius).
• Changes in their pee, including peeing more or less than usual, inability to pee, pain when they pee or blood in their pee.

What questions should I ask my child’s healthcare provider?

You may want to ask your child’s provider:

• What congenital urinary abnormality does my child have?
• How will their urinary abnormality affect their life?
• Is my child at a greater risk for other health conditions?
• Does my child need treatment?
• What’s the best treatment?
• What complications should I look out for?
• What long-term effects might my child have?