Introduction
These are a rare type of disease condition present along with birth. These abnormalities affect the urinary and genitourinary tract. The components of the urinary tract are the pelvis, kidney, ureter, urinary bladder, and urethra. Abnormalities can occur in any of these parts during birth. These abnormalities affect the proper functioning of these systems. Due to the increase in technology, normal ultrasound can detect any defects present in the baby during intrauterine life.
What Are the Diseases Associated With Urologic Congenitalism?
Below mentioned are disease states due to urologic congenitalism:
1) Change in the Direction of Movement of Urine: It is a congenital disease in which urine returns to the kidney from the bladder through the ureters. This type of disease condition is known as vesicoureteral reflux. Usually, urine flows in one direction only in normal cases, from the kidney to the bladder to the ureter. It is a hereditary disease in which if the parents have this disorder, the child can acquire it.
Causes: There is a valve in between the ureter and bladder. Improper closure of the valve will lead to backflow of urine into the ureter. It is usually observed on one side only. It is known as the primary vesicoureteral reflux. The other cause is any obstruction while passing the urine or any narrowing in the tube of ureters which will lead to backflow of urine. It is known as the secondary vesicoureteral reflux.
Symptoms: The patient experiences difficulty in passing the urine. Pain is present in the abdomen and back area, fever, frequent urination, and only a small amount urine comes during the passage of urine.
Diagnosis: Based on the history of the disease, state, and physical examination done by the doctor to come to a proper diagnosis, certain blood tests, blood pressure values, urine tests, and imaging techniques are performed.
Creatinine levels are checked in the blood to know if any kidney disease is present.
Testing of the urine and culturing is done.
X-rays are taken.
An imaging technique uses sound waves to create kidney and urinary tract images. This procedure is called ultrasound. It is a painless technique and can be used for small infants also.
Blood pressure values are raised if the disease is associated with the kidney.
Another scan is referred to if the ultrasound indicates a vesicoureteral reflux. The name of the scan is dimercaptosuccinic acid scan, which views any scar developed in the kidney due to a urinary tract infection.
Treatment Modalities: It is done based on the child's age, symptoms seen, and the type of vesicoureteral reflux. It is usually treated using medication, and if the severity increases, surgery is considered. Medications given are antibiotics and drugs to lower high blood pressure.
2) Abnormality Occurring in the Opening of the Urethra: It is a congenital defect seen in infant baby boys where the opening of the ureter is not proper. This abnormality is known as hypospadias. Usually, the opening of the ureter is situated at the tip of the penis, in the case of hypospadias in the underside of the penis.
Cause: The exact cause for hypospadias is unknown. It can occur due to hormonal changes. It is believed that some environmental factors play a role in it. If hypospadias is present in the family, the child tends to acquire it. Maternal factors like the mother's age, if it is more than 35, is a risk, and pregnancy obtained through fertility treatment is also a risk factor.
Symptoms:
The urination appears in an abnormal pattern due to the change in position of the urethra.
The penis appears to be curved downward.
The foreskin usually covers the penis in case of hypospadias, but the foreskin covering appears to be incomplete.
Diagnosis: It is usually diagnosed immediately after delivery when the pediatrician examines the newborn. During the examination, the doctor will notice the abnormal position of the urethra and the incomplete covering of the foreskin.
Treatment: The treatment option is surgery. It is usually done at the age of 3 to 18 months. During the surgery, the doctor corrects the position of the urethra, correcting the foreskin covering it and correcting the downward curve of the penis.
3) Swelling of the Kidneys: It is a condition occurring due to the inability to drain the urine from the kidney resulting in swelling and stretching of the kidney. This disease condition is known as hydronephrosis. These conditions can be diagnosed intrauterine during a routine ultrasound.
Causes:
If there is any obstruction to the flow of urine from the kidney to the bladder.
Occurs when urine production is more in infants.
Obstruction in passing the urine out from the bladder.
Symptoms: The babies may experience difficulty while passing urine, blood may be present in urine, the frequency of passing the urine is less, and few.
Diagnosis: During the physical examination after the delivery, the doctor will discover the condition. It can be confirmed with the help of sound wave imaging techniques. This imaging The technique is called ultrasound. It helps to view the cause of this condition and helps in treatment planning.
Treatment: Based on the severity of symptoms and causes, treatment is initiated. Antibiotics and painkillers are given to reduce the probability of urinary tract infection and pain. Surgery is not considered a treatment modality.
4) Prune Belly Syndrome: It is a rare type of disease. The main features associated with the syndrome are abdominal muscles are not developed properly. As a result, skin present on the belly is wrinkled, testicles appear undescended, and urinary tract problems. This syndrome is also known as Eagle-Barrett Syndrome.
Cause: The exact cause of the condition is unknown.
Symptoms: Difficult in passing urine, wrinkled appearance of skin over the abdominal wall, testicles fail to reach the scrotum.
Diagnosis: Ultrasound scans performed during pregnancy help rule out prune belly syndrome. In addition, after the delivery, some tests are performed to diagnose the disease, such as blood tests, X-rays, CT scans, and ultrasounds.
Treatment: Antibiotics are given to prevent urinary tract infections. Unfortunately, surgery is the only option to correct the undescended testicles and repair the abdominal wall.
5) Blockage in the Passage of Urine From the Kidney to the Bladder: Posterior urethral valves are a type of rare type birth defect seen in babies. In this case, extra tissue is found in the ureter, which blocks the passage of urine to the bladder. This block in the passage of urine will cause urine retention in the body leading to damage to the organs in the urinary tract.
Cause: Some studies suggest that the disease condition is transferred from the parents as an inherited type.
Symptoms: Infection in the urinary tract, difficulty in passing the urine, kidney failure, pain while passing the urine.
Diagnosis: This condition can be diagnosed during the intrauterine life itself. For example, after birth, if the doctor suspects a posterior urethral valve, the patient is asked to do some diagnostic procedures. The diagnostic procedures include blood testing to assess kidney functioning and an ultrasound of the abdomen to identify the obstruction. Another procedure is cystoscopy to view the urinary tract with the help of a thin, flexible tube light and a camera to view the inside.
Treatment: Small obstructions are removed through surgical procedures. In case of major obstructions, vesicostomy is done through an opening which is made in the urinary bladder to drain the urine out.
Conclusion
This type of urologic congenitalism is a rare type of birth defect. Routine ultrasound identifies most of the conditions in the baby's intrauterine life. So when the baby is born, the diagnosis can be made and treatment started very early without much delay. If the treatment procedures are done at the right time, there will be no problems or issues.
