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Long-Term Urologic and Gynecologic Management for Anorectal Malformations
Anorectal malformations (ARM), also known as imperforate anus, occur when a baby’s anal opening, rectum and associated nerves (that signal the body that it’s time to go to the bathroom) do not develop properly. Surgical treatment is performed to correct these deformities, but some children can also have long-term urologic and/or gynecologic issues that may require ongoing medical management. These conditions may include kidney disease, bladder problems, a host of urologic problems (in boys), and urologic and gynecologic problems (in girls).
Our team in the Division of Pediatric Colorectal & Pelvic Reconstruction understand that children with ARM may need on-going, coordinated treatment and care from specialists across multiple medical disciplines in order to maintain urologic and gynecologic health throughout their lifespan.
There are four main factors that influence long-term urological health in children with ARM, including:
- The presence of kidney or bladder abnormalities at birth
- The presence of abnormal development of the spine (sacral dysgenesis)
- The effects of surgical intervention to correct the ARM
- The effects of spinal cord tethering causing bladder dysfunction (which may change over time)
Long-term treatment protocols for children with ARM will be different for each individual depending on the severity of their condition, their specific medical needs and if any other conditions arise as a result of their ARM.
Even if normal kidney (renal) and urinary function is present at birth, this does not mean that potential problems can’t develop in the future. In some cases, kidney and urinary problems do not produce symptoms until chronic kidney disease has already developed. So, careful management and follow up care for children with ARM is critical to their health.
To assess risks and to possibly prevent future issues, infants with ARM should undergo diagnostic testing shortly after birth to check their urologic health.
These tests include:
- Renal tract ultrasound
- X-rays of the sacrum (the area at the bottom of the spine)
- Voiding cystourethrogram (VCUG): a test that uses a combination of X-ray and fluoroscopy to visualize a child's urinary tract and bladder
- Spinal ultrasound and/or MRI (depending on the age of the patient) to check for abnormalities
Following surgical treatment for ARM, children should have regular annual check-ups. Monitoring at outpatient visits should include:
- Urological history, including whether the child has had urinary tract infections and the development or loss of urinary continence
- Annual renal tract ultrasound, a test that is performed if hydronephrosis (swelling of the kidney due to a build-up of urine) or scarring is present
- Annual renal blood work
- Screening questions about symptoms related to a tethered spinal cord
- Possible urodynamics testing, which are studies that show how well the bladder, sphincters, and urethra hold and release urine
Urologists are critical in ensuring kidney and bladder function are appropriately evaluated and managed during childhood and well into adulthood for patients with ARM. The urologist’s role in a child’s care will include focused attention on bladder and kidney management to minimize long-term potential problems. A urologist's collaboration with a pediatric colorectal surgeon ensures that joint surgical procedures can be performed when needed and the number of anesthetics can be minimized in patients with more complex cases. Urologists are also well equipped to address sexual concerns as patients enter adulthood and can diagnose infertility issues as well.
Gynecologists offer a unique perspective to the management and care of girls with ARM. The benefit of having a gynecologist continuously involved in care includes earlier recognition of gynecological abnormalities and a potential reduction in the number of surgeries needed. When involved early in a patient’s care, gynecologists are able to counsel and educate parents about future menstruation, fertility outcomes and options for their daughter. They can also help manage expectations for further treatment or surgery. As the patient transitions to adult care, the gynecologist can help to address issues of sexuality, sexual function, family planning and other routine gynecologic care.