Abnormalities occurring in the kidneys, urinary bladder, the ureters connecting the kidneys to the bladder and the urethra are referred to as urinary tract defects.

• Most of the minor defects of the urinary tract may not have any symptoms, but some defects may lead to infections of the urinary tract, kidney stone formation or passing of blood in the urine.
• Urinary tract defects can be detected by ultrasonography, CT scan, and nuclear scanning. Cystoscopy and intravenous urography are two other useful tests.
• Surgical correction may be necessary when the defect increases the pressure on the kidneys or if symptoms develop.

Urinary tract defects are the most common type of birth defects. In addition to the kidneys and the urinary bladder, ureters which carry the urine to the bladder, and the urethra into which the bladder is emptied, also may be affected. When the urine flow is blocked or restricted by any of the birth defects, urine gets stagnated, resulting in the formation of kidney stones or infections of the urinary tract. Urine pressure may increase due to blockages, resulting in backward urine flow into the kidneys. This reflux eventually causes damage to the ureters and the kidneys. Frequent urinary tract infections, when combined with reflux, can have serious consequences.

Symptoms

In many cases of urinary tract defects, symptoms may be completely absent. Certain kidney defects result in blood in the urine when minor injuries happen. Birth defects of the urinary tract make the affected people highly prone to urinary tract infections which can occur at any location along the tract. These infections may cause other symptoms. However, when kidney damage is caused by blockages in the tract, no symptoms may appear till kidney function is extremely reduced. Severe loss of kidney function leads to kidney failure. When blockages cause kidney stone formation, the main symptom is very severe pain in the flanks or the groin. Blood may be present in the urine due to injuries caused to the urinary tract by the passage of tiny stones.

Diagnosis and Treatment

A physical examination followed by ultrasound scan or CT scan help diagnose urinary tract defects and abnormalities. Intravenous urography and nuclear scans are other useful diagnostic tests. Cystoscopy also may be conducted. Surgical correction of the defects is necessary when defects cause extra pressure on the infant’s kidneys or when symptoms are present.

KIDNEY AND URETER DEFECTS

Kidneys, and the thin tubes called ureters which connect them to the urinary bladder, may have several congenital defects or abnormalities. Some of them are:

• Ectopia, an abnormality in which the kidneys are situated in the wrong place.
• Malrotation, which causes the kidneys to be in an abnormal position.
• Horseshoe kidney, which is formed when the two kidneys are joined together.
• Potter’s syndrome, which is the absence of both the kidneys causing death.
• Polycystic kidney disease (PKD), characterized by the presence of cysts filled with fluid occurring in the kidneys.

Enlargement of kidneys resulting from blockages in the flow of urine may be felt by the doctor during a physical examination. Narrowing of the ureters may restrict the flow of urine from the kidneys into the urinary bladder. Other abnormalities in the ureters include development of extra ureters, wrong positioning of the ureters, and widening of the ureters.

Most of the congenital kidney defects are not detected, as they do not cause any symptoms. Certain defects which interfere with kidney function may result in kidney failure. Dialysis is the treatment for kidney failure. Kidney transplantation is another option if suitable donor kidney is available.

BLADDER AND URETHRA DEFECTS

Several congenital defects and abnormalities may occur in the bladder, or the urethra, resulting in symptoms that vary according to the severity of the defects. Some of them are:

• Exstrophy, in which the urinary bladder opens on the abdominal surface due to incomplete closing of the bladder during fetal development.
• Diverticula or outpouchings of the urinary wall bladder in which urine may get stagnated, resulting in infections.
• Narrowing of the bladder outlet causing incomplete emptying of the bladder.

In some infants, the urethra may be completely absent or abnormally formed. Abnormal growth of tissues may partially block the posterior urethral valves, restricting the flow from the urinary bladder. Urinary stream at the time of voiding may be weak in infants with this condition. They have a very high risk of developing urinary tract infections and even a serious infection of the blood known as sepsis. Anemia and reduced weight gain are common symptoms in the affected infants. Surgical correction of the blockage has to be done in such cases. When the defects are minor, symptoms may not appear in infants. However, symptoms may eventually appear in childhood, but they are usually mild.

Sometimes, the urethral opening in boys may not be in the right place. When it occurs on the underside of the boy’s penis, it is known as hypospadias. Chordee is a condition in which the penis is bent downwards, commonly occurring in boys who have hypospadias. These defects can be surgically corrected. When the urethra runs along the length of the penis as a channel, instead of as a closed tube, it is referred to as epispadias. Narrowing of the urethra, when it occurs in boys, or in girls, it may cause obstruction to the urine flow. Surgical correction is often necessary.

Watch This Explanatory video of Polycystic kidney disease (PKD):

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