The genitourinary tract is the system most frequently affected by congenital defects. Such defects can be solitary (e.g., hypospadias) or involve multiple organ systems (e.g., myelodysplasia). As these patients now are surviving to adulthood with excellent health, issues of sexuality, post-pubertal genital appearance and function, urinary and fecal incontinence, and fertility and pregnancy are becoming important health and quality of life issues. Moreover, with aging and development of other medical comorbidities, patients with congenital anomalies experience typical urological age-related problems (like benign prostatic hyperplasia and prostate cancer) that are often more complicated by their co-existing anomalies and prior operations.
We develop a personalized medical plan for these patients combining knowledge of the patients’ anomalies, prior surgeries, urological and medical risks and—most importantly—their own personal health objectives. For patients with congenital anomalies affecting multiple organ systems, we work closely with specialty-specific transitional medicine specialists in other departments. Here are some examples the collaborative effort.
Case 1: A 20-year-old man with spastic quadriplegia, mental retardation, and multiple urological abnormalities, including proximal hypospadias.
The patient had undergone several repairs in the past and presented with recurrent, severe urinary infections. A retrograde urethrogram was performed (Figure 1). It demonstrated severe penile urethral stricture with a proximal diverticulum. He attends a day program in which he is assisted with spontaneous voiding into a urinal in his wheelchair. He was unable to have a perineal urethrostomy. Moreover, placement of a suprapubic tube in the past caused bladder spasms that set off severe whole-body spasms and impaired his ability to function in a group setting. He underwent staged urethral reconstruction with injection of his bladder with Botox to limit bladder spasticity. This restored him to his baseline urinary function and allowed him to remain in his daycare environment.
Case 2: A 28-year-old man with a history of bladder exstrophy who underwent reversal ureterosigmoidostomies at age 7 and a continent catheterizable urostomy.
The patient developed sigmoid colon cancer at age 28 and was found to have a significant stone burden in his pouch (Figure 2). He had a functionally solitary kidney with mild chronic renal insufficiency. He underwent colectomy with an ileal J-pouch by the colorectal surgeons with open cystolithalopaxy. Unfortunately, because of a combination of dehydration from his diverting ileostomy, difficulty irrigating his capacious pouch, and chronic acidosis, he continued to form stones and experience multi-drug resistant urinary infections. He adamantly refused an incontinent urinary diversion, as it would require that he stop working. Therefore, he underwent laparotomy with excision of his entire pouch, reduction of his pouch, and revision of his catheterizable channel. Two years after surgery, he remains stone free, without infections, and with stable renal function.
The authors are with the Center for Genitourinary Reconstruction at the Glickman Urological and Kidney Institute of the Cleveland Clinic.