Congenital Anomalies of the Urologic System - Types, Diagnosis, and Treatment.

Introduction

Birth disorders affecting the urological and genital systems (or genitourinary systems) are congenital urological anomalies (abnormalities). Congenital refers to the fact that they start either very early in infancy or during fetal development. These genitourinary and other organ systems, as well as various portions of the urinary tract, can be affected by these disorders, including the following:

• Kidneys.

• Bladder.

• Ureters (the tubes transporting urine from the kidneys to the bladder).

• Genital organs.

Depending on the disorder, these anomalies can be identified while still in the womb, during infancy, or throughout childhood. At the same time, some may only be discovered once symptoms appear during adolescence or adulthood.

What Kinds of Urological Anomalies Be Present at Birth?

Congenital urogenital abnormalities of the following types can affect infants, young people, and adults:

• Hydronephrosis: The disorder known as hydronephrosis manifests as a clog or defective valve in the urinary tract. The kidneys become inflamed due to the obstruction of the tube connecting the kidney and bladder. In around one out of 100 pregnancies, it happens during fetal development. There are numerous causes of hydronephrosis, and in certain cases, the kidney(s) may be harmed if the main cause is not addressed and treated.

• Cryptorchidism, or Undescended Testicles: This is the most prevalent birth abnormality affecting the genitourinary system in male infants. Males have two round organs called testicles, often found in the scrotum. In a typical male fetus, the testicles grow in the abdomen and travel (descend) to the scrotum before birth. The testicles typically descend within six months of birth if a baby is born without them. The testicles may not descend, instead staying in the groin or abdomen.

• Hypospadias: Only male neonates are afflicted by this disorder. It happens when the urethra's opening - where urine leaves the body - is situated below the penis rather than at its tip. About five out of every 1,000 male neonates born in the US (United States) have it. This is one of the most frequent urological anomalies. It is possible for boys born with hypospadias to have undescended testicles or a bent penis. Due to difficulty controlling the pee stream, people could have trouble urinating.

• Spina Bifida: A cleft spine is a birth condition that develops when the meninges (membranes protecting the brain and the spinal cord), spinal cord, or both are not fully formed during fetal development. The meninges surround the spinal cord and serve as a defense barrier. From mild to severe, there are four main forms of spina bifida. The most severe kinds might cause partial or total paralysis below the spinal opening in the affected individuals. Problems with the lower extremities and bladder or bowel disorders may develop from this.

• Vesicoureteral Reflux (VUR): The disorder is characterized by abnormal urine flow from the bladder to the upper urinary tract. Normally, the bladder stores urine produced by the kidneys, which exits the body through a tube attached to the bladder's base. The small tubes that connect the bladder and kidneys are known as the ureters, and vesicoureteral reflux occurs when urine runs back or refluxes into one or both of them. The urine might occasionally return to either one or both kidneys. Unilateral reflux occurs when only one ureter and kidney are damaged. Bilateral reflux is the medical term for when both are affected. VUR is more common in infants and young children, although it can also affect older kids and adults.

• Bladder Duplication Abnormalities: A second kidney or another region of the urogenital tract can occur in cases with bladder duplication abnormalities.

• Cystic Kidneys: These are fluid-filled growths on the kidney brought on by various conditions, including polycystic kidney disease, multicystic dysplastic kidney, medullary cystic disease, and medullary sponge.

• Fused Kidneys: Fusion anomalies (horseshoe kidney or crossed-fused renal ectopia).

• Agenesis of the Kidneys: The absence of one or both kidneys.

• Kidney (Renal) Dysplasia: Abnormal development of the tissues inside the kidneys or tubules.

• Ectopic Kidneys: An incorrect kidney position.

• Neurogenic Bladder: This is one in which a brain and nerve condition brings on the inability to control one's urination.

• Urethral Meatal Stenosis (Urethral Stricture): It is the narrowing of the entrance of the urethra (the tube that drains urine from the body).

• Urinary Tract Infections: These are bacterial infections that cause swelling and obstructions in your urethra, bladder, or kidneys (urethritis, cystitis, and pyelonephritis).

• Bladder Exstrophy: This uncommon congenital anomaly causes the bladder and related organs to be internally rotated. Through a hole in the abdominal wall, the back portion of the bladder wall is exstrophy (turned outward). The opening allows urine to spill into the lower abdomen. There are many severity levels for bladder exstrophy. The urethra, the tube that transports pee out of the body, has a malfunction, which results in the least serious kind. When the urethra and the tip of the penis are exposed from the top of the bladder, it is known as classic bladder exstrophy (in male children). It is unknown what caused the disease specifically. Kidney damage and bacterial urinary tract infections are examples of complications. Kidney failure and high blood pressure may be caused by scarring of the kidneys.

• Eagle-Barrett Syndrome: Also known as prune belly, it is a rare hereditary condition that primarily affects young boys. The absence of all or part of the abdominal (stomach) muscles results in the belly's wrinkly or prune-like appearance. An enlarged bladder or occlusion of the bladder neck are two examples of associated urinary tract abnormalities. Expansion of the ureters and undescended testicles are examples of further abnormalities. The disorder may result in urine building up in the kidneys or ureters and flowing backward from the bladder to the ureters.

• Posterior Urethral Valve (PUV) Disorder: Excess membrane flaps in the urethra's back produce this congenital disease. It only affects male newborns and prevents urine from passing through the urethra. PUV results in a urine backflow into the bladder, possibly thickening the muscle wall there. Possible bladder enlargement. The ureters and the kidneys may suffer injury when urine rises through the ureters and into the kidneys.

How Are Congenital Anomalies of the Urological System Diagnosed?

The different investigations done to diagnose the urological system are:

• A Blood Test - Blood tests, such as those that assess blood cell counts, electrolyte levels, and kidney function, may be used by the doctor to assess the status.

• Biopsy - A kidney biopsy is a procedure in which a laboratory collects and analyzes tissue from the kidney. Results aid in diagnosing renal illness, evaluating kidney damage, and selecting the most appropriate course of therapy.

• Cystoscopy - This method is carried on by using a small, flexible tube with a light and camera at the end. This assessment looks at the lining of the bladder and urethra.

• Cystography - Bladder cystography, also known as a voiding cystourethrogram (VCUG) or a micturating cystourethrogram (MCUG), aids medical professionals in the diagnosis of urethral disorders or urinary dysfunction, including urinary tract infections, obstructions, and issues with bladder control (UTIs). An imaging technician will capture X-rays as one urinates while the bladder is filled with contrast dye during the operation. The doctor may also ultrasound the kidneys if they suspect vesicoureteral reflux.

• Kidney Scan (Radionuclide Scan) - This nuclear imaging test evaluates the kidney's blood flow and urine production by injecting a small amount of radiotracer chemical into the veins. The imaging technician utilizes a gamma camera or scanner, a specialized camera, to find the radiotracer outside of the body. Renal scans can reveal impaired kidney function brought on by illnesses, accidents, structural flaws, or blockages.

• Urinalysis - Doctors examine urine samples to check for red blood cells, white blood cells, or an abundance of protein. The doctor may collect a urine sample at the session, for 24 hours, or by using a catheter (thin, flexible tube) to remove a sample straight from the bladder.

• Urography - An imaging procedure called a urography looks at the kidneys, bladder, and ureters using a contrast dye and either magnetic resonance imaging (MRI) or computerized tomography (CT).

• Urethrography - Urethrography is a diagnostic tool used by doctors to identify blockages, urethral constriction, and other anatomical problems. The test is virtually entirely administered to males. In this instance, the contrast dye is introduced into the urethra but does not reach the bladder entirely.

What Are the Different Treatments Available for Congenital Urological Anomalies?

The different treatment options available for congenital urological anomalies are:

• Angiography and Stent Implantation - The doctor might advise implanting a stent (a flexible mesh tube) in the restricted kidney blood channel to improve blood flow. The doctor uses X-ray guidance to make a tiny incision and introduce a catheter with a balloon that is attached but not inflated into the constricted conduit. The doctor inserts the stent into the vessel after inflating the balloon to keep it open.

• Catheterization of the Bladder - The physician might use a catheter to remove extra urine and stop additional harm.

• Rehabilitation of the Bladder - To treat bladder control issues, such as the inability to urinate due to paralysis, nervous system dysfunction, or other renal diseases, the doctor may advise physical rehabilitation therapy. In order to help with function improvement, specially qualified therapists offer instruction, physical therapy, and individual treatment programs.

• Medicine - The doctor may prescribe medication to treat an infection, lessen edema (swelling), manage pain, or relax the bladder.

• Surgery - In some cases, congenital urogenital abnormalities are treated surgically by doctors. If surgery is the best course, the doctor will review alternatives.

Conclusion

Healthcare experts collaborate with patients to solve various challenging urological and personal issues. Medication, surgery, or outpatient procedures may be used as treatments and counseling. Since many of these congenital defects are inherited, developments in prenatal diagnostics, imaging, genetic testing, laboratory surveillance, and medical therapy have improved the prognosis and quality of life for affected families.