Congenital urinary abnormalities are conditions present at birth or during early infancy that impact the urological or genital systems. These conditions may affect various parts of the genitourinary system and sometimes other organ systems as well.
What are congenital urinary abnormalities?
Congenital urinary abnormalities describe irregularities in the urinary and reproductive (genitourinary) systems. When something happens during fetal development or very early in infancy, it is considered congenital.
These conditions can affect the following organs:
Kidneys- Kidneys filter salt, water, toxins and waste products from your blood and help make urine (pee).
Urinary bladder- The bladder is a stretchy organ that holds pee.
Ureters- These are tubes of muscle that transport pee from your kidneys to your bladder.
Congenital anomalies of the kidney and urinary tract (CAKUT) refer to one or more abnormalities affecting the kidneys or urinary tract. For paired structures like the kidneys and ureters, either one or both may be impacted. CAKUT includes a wide range of developmental abnormalities, such as underdeveloped or absent kidneys (renal hypodysplasia or agenesis), kidneys made up of fluid-filled sacs (multicystic dysplastic kidney), urine accumulation in the kidneys (hydronephrosis), an extra ureter connected to the kidney (duplex kidney or duplicated collecting system), a blockage where the ureter meets the kidney (ureteropelvic junction obstruction), an unusually wide ureter (megaureter), backflow of urine from the bladder into the ureter (vesicoureteral reflux), and a membrane in the urethra that obstructs urine flow from the bladder (posterior urethral valve).
The severity of CAKUT can vary widely. These abnormalities may lead to recurrent urinary tract infections or urine buildup in the urinary tract, potentially causing damage to the kidneys or other structures. In severe cases, CAKUT can result in life-threatening kidney failure and end-stage renal disease.
What are the major urinary abnormalities?
Common urinary abnormalities include:
Hydronephrosis- It is a condition that causes one or both of the kidneys to swell (distend) because something prevents pee from flowing from the kidneys to the bladder.
Undescended testicles (cryptorchidism)- During pregnancy, testicles develop in the abdomen and typically drop into the sack of skin that hangs behind the penis (scrotum). Undescended testicles don’t drop into the 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.
Vesicoureteral reflux (VUR)- Normally, pee flows from the kidneys, through the ureters, into the bladder and out of the body through the urethra. VUR causes pee to flow back up the ureters and sometimes into the kidneys.
Bladder exstrophy- This is a rare condition in which the 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)- It 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) condition- This congenital abnormal membrane creates a blockage in the male urethra, forming a valve that disrupts normal bladder emptying. The severity of the obstruction can vary, and in extreme cases, it may result in kidney failure if not addressed. Associated conditions may include hydronephrosis and vesicoureteral reflux, among others.
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.
Symptoms of urinary abnormalities
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
Not growing as expected
What causes urinary abnormalities?
The causes of urinary abnormalities result from a combination of genetic mutations and environmental factors. Environmental factors may include:
- Maternal diabetes during pregnancy.
- Deficiencies in essential vitamins or minerals, such as folate and iron, during pregnancy.
- Use of certain medications that can harm the kidneys, such as antiseizure drugs.
The most common genetic mutations linked to urinary abnormalities involve the PAX2 and HNF1B genes. These genes play a crucial role in the development of the kidneys, urinary tract, and other tissues
Diagnosis and Tests
Healthcare providers often identify congenital urinary abnormalities during prenatal ultrasounds. If an abnormality is not detected before birth, it may be suspected during infancy or childhood based on your child’s symptoms. To confirm the diagnosis, healthcare providers may use various tests, including:
- Ultrasound: Provides detailed images of the urinary system.
- Urinalysis (urine test): Helps assess the presence of infection or other abnormalities.
- Blood tests: Evaluate kidney function by measuring the estimated glomerular filtration rate (eGFR).
- CT (computed tomography) scan and MRI (magnetic resonance imaging): Offer detailed imaging of the urinary tract.
- Voiding cystourethrogram (VCUG): A specialized imaging test that shows the bladder while it fills and empties.
- Renal scan (kidney scan): Uses a small amount of radioactive material to capture detailed images of the kidneys.
- Urodynamic testing: A catheter-based test to evaluate bladder function.
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
Timely treatment is crucial
Many common urological issues in children can be effectively treated with behavioral therapy and medication as recommended by the doctor. The specific treatment plan depends on the child’s urological condition and overall health, with non-surgical options often being the first choice.
However, more advanced pediatric urology conditions may require surgery.
Conclusion
Early diagnosis and prompt detection of these conditions in children are essential, as delays, incorrect diagnosis, or lack of proper treatment can result in kidney failure. This could leave both the child and parents with renal transplantation as the only option, a procedure that is particularly critical in children. If you notice any signs or symptoms of urinary abnormalities in your child, it is important to consult a pediatric urologist for appropriate evaluation and treatment.
FAQ’s for Common Congenital Urological Disorders in Newborns: Causes, Symptoms, Diagnosis and Treatment
Congenital urological disorders are conditions present at birth that affect a baby’s kidneys, ureters, bladder, or urethra. These abnormalities can impact urine flow, cause infections, or lead to kidney damage if not treated early.
CAKUT (Congenital Anomalies of the Kidney and Urinary Tract) includes a group of developmental defects like underdeveloped kidneys, hydronephrosis, or blocked urine flow. It can lead to urinary tract infections or kidney failure if untreated.
They are usually caused by genetic factors, environmental influences during pregnancy (like maternal diabetes or vitamin deficiencies), or medication exposure that interferes with fetal kidney development.
Common defects include hydronephrosis, undescended testicles, hypospadias, vesicoureteral reflux (VUR), posterior urethral valves, and bladder exstrophy.
They are often detected during routine prenatal ultrasounds. Postnatal tests include urinalysis, kidney ultrasound, VCUG (voiding cystourethrogram), MRI, and blood tests to assess kidney function.
Yes. Treatment depends on the severity and type of abnormality. Options include medications, catheterization, surgical correction, dialysis, or even kidney transplantation in severe cases.
Signs include poor urine stream, frequent UTIs, abdominal swelling, blood in urine, poor weight gain, or fever without a known cause.
Not always. Many conditions are managed with medication or close monitoring. Surgery is recommended when there is obstruction, severe reflux, or if the kidneys are at risk of damage.
Yes. Conditions like undescended testicles or severe hypospadias may affect fertility if not treated early. Early intervention can greatly reduce long-term complications.
Early diagnosis helps prevent complications such as chronic kidney disease, infections, and growth issues. Timely treatment offers the best outcomes for your child’s health and development.
Author: Dr. Satyanarayana Ravula
Consultant Pediatric Surgeon and Pediatric Urologist
