Genitourinary Anomalies

Genitourinary anomalies affect the development of the genitourinary system, which includes the kidneys, bladder, urethra, and other parts of the pelvis.

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Conditions we treat:

Eagle-Barrett syndrome (prune belly syndrome): Eagle-Barrett syndrome, also known as prune belly syndrome, is a congenital disorder that is characterized by three primary factors: the partial or complete absence of abdominal muscles, undescended testicles, and enlarged bladder and ureter.

The anomalies typically result in the bladder failing to empty well, which can lead to chronic kidney disease. Treatment may include surgery to correct urinary tract problems and other supportive measures.

Bladder Outlet Obstruction: Bladder Outlet Obstruction is a fetal condition that occurs when the lower urinary tract is obstructed, preventing urine from flowing out of the body. A complete urethral obstruction is called urethral atresia, but alternative forms include:

• Posterior urethral valves (PUV), which occurs in males only and is when an abnormal fold in the urethra prevents urine from flowing through the tract.
• Triad syndrome is when the urethra has a narrowing in its midsection, creating a bottleneck for urine passing through.
• Cloacal Malformation, which is occurs in females and forms when the rectum, vagina and urinary tract fused together, creating a single common channel. This is a kind of anorectal malformation. 

Bladder outlet obstruction can lead to mild to severe problems. For more severe cases, the buildup of urine in the bladder can cause it to become enlarged and thickened, putting pressure on the kidneys and potentially causing damage or even failure. 

In utero, BOO can also cause the amniotic fluid levels to become too high, a condition known as polyhydramnios. BOO is typically diagnosed through ultrasound during pregnancy, and treatment may involve a catheter or surgical intervention to relieve the blockage and prevent further complications.

Autosomal recessive polycystic kidney disease: Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder that can cause fluid-filled cysts in the kidney in utero or after birth. These cysts can cause the kidneys to become enlarged and can result in poor kidney function and eventually failure, even in a fetus. 

ARPKD is inherited in an autosomal recessive pattern, which means that a child must inherit two copies of the mutated gene (one from each parent) to develop the condition. Treatment focuses on managing symptoms and preventing complications, and may include medication, surgery, and dialysis or kidney transplantation for those with kidney failure.