The Children’s nephrology team is working with the UAB Tuberous Sclerosis Clinic to improve the care of children with TSC.
Tuberous sclerosis complex (TSC) is a rare genetic condition in which non-cancerous tumors grow in various body organs. It affects about one in 1 million births. Although primarily viewed as a neurological condition, it requires multidisciplinary care since the tumors may appear in any organ, particularly the kidneys. That’s why Children’s of Alabama’s nephrology specialists have become more involved with the University of Alabama at Birmingham’s Tuberous Sclerosis Clinic, one of only 10 in the country designated as a Center of Excellence by the TSC Alliance.
Between 50% and 75% of patients with TSC develop benign tumors in their kidneys, called angiomyolipomas, pediatric nephrologist Daniel Feig, M.D., Ph.D., said. They rarely cause symptoms, but can crowd out kidney function, squashing blood vessels adjacent to the tumors, resulting in high blood pressure. If they get much bigger than 3 to 4 cm, he said, “there’s a very, very high risk of them bleeding.” Such bleeding could be life threatening. Medications called mTOR inhibitors can shrink the tumors and may prevent their recurrence after surgery.
About 5% of patients with TSC develop a more serious cystic kidney disease called polycystic kidney disease, the result of yet another genetic mutation. “They can progress to kidney failure because the cysts replace the normal functional tissue in the kidneys.” There isn’t much available to treat the condition, Feig said, other than monitoring and managing blood pressure. About 3% of people with TSC will develop kidney cancer.
The weekly tuberous sclerosis clinic is directed by Martina Bebin, M.D., a pediatric neurologist at Children’s; and Bruce Korf, M.D., Ph.D., a pediatric neurologist who also specializes in genetics. “Over the last year we’ve worked to improve the communication between the pediatric neurology and nephrology groups as well as becoming more involved with the Tuberous Sclerosis Alliance,” Feig said. “That includes presentations for families about the optimal care of pediatric patients and how to avoid complications.”
Feig and his team are also involved in clinical trials to manage renal tumors and identify agents that can shrink them, thus avoiding surgery or even kidney loss. Screening is key, he said, “so we can identify when children need interventions.” In addition, understanding the growth parameters of the tumors and how they link to the two genetic mutations that cause the disease enables clinicians to personalize care and “take some of the guesswork out of how we’re monitoring these patients.”
People with TSC may be diagnosed in utero if an ultrasound shows the presence of tumors in the heart, called rhabdomyomas. Some are diagnosed after birth because of hypopigmented macules on the skin that look like the leaves from an ash tree. Seizures during the first year of birth are another clue, but many children aren’t diagnosed until they demonstrate developmental delays when they start school.
With only two Centers of Excellence in the Southeast, Feig said, “We’re situated to help provide care for our region and extending far beyond Alabama.”
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