for Physicians
for Patients

TUBEROUS SCLEROSIS COMPLEX (TSC)

Clinical practice recommendations for kidney involvement in tuberous sclerosis complex: a consensus statement by the ERKNet Working Group for Autosomal Dominant Structural Kidney Disorders and the ERA Genes & Kidney Working Group

BACKGROUND

Tuberous Sclerosis Complex (TSC) is a rare genetic condition that can cause non-cancerous tumors to grow in different parts of the body, like the brain, kidneys, heart, and skin. These tumors happen because of changes in one of two genes, called TSC1 or TSC2, which normally help control cell growth. When these genes don’t work properly, it leads to the growth of tumors.

TSC affects about 1 in 6,000 to 10,000 people worldwide, and it can show up differently in each person. Some people might have mild symptoms, while others could face more serious health problems. Kidney issues are very common in TSC, with around 8 out of 10 people with TSC experiencing kidney-related problems. These can include growths in the kidneys that can lead to high blood pressure or kidney failure if not managed properly.

Managing TSC usually involves a team of different healthcare specialists who work together to monitor and treat the various symptoms. Thanks to advances in genetic testing, doctors can now diagnose TSC earlier and provide better, more personalized care. Regular check-ups, especially for kidney health, are important to catch any issues early and help maintain a good quality of life.

DISCLAIMER

Understanding medical guidelines can be challenging, which is why we have summarized this important document in layman’s language. Our goal is to ensure you have access to the information you need to make informed decisions about your health or the health of your child. In this Consensus Statement, experts from various medical fields, along with patient representatives, came together to provide the most up-to-date information on kidney problems in TSC. Their goal was to create a comprehensive guide for all doctors involved in the care of TSC npatients, regardless of their age, to improve their overall care.

GUIDELINE

Kidney Problems in TSC   

There are three main types of kidney issues in people with TSC:

  • Angiomyolipomas: Noncancerous tumors that can cause bleeding and other complications.

  • Cystic Kidney Disease: The development of fluid-filled sacs in the kidneys, which can impair kidney function.

  • Kidney Cancer: Although less common, kidney cancer can occur in TSC patients, particularly in those with certain genetic changes.

     
Diagnosis and Monitoring   

  • Regular Check-Ups: It’s important for people with TSC to have regular kidney check-ups, including blood pressure monitoring and imaging tests like MRIs.

  • Blood and Urine Tests: These tests help doctors monitor kidney function and detect early signs of kidney damage.

     
Treatment Recommendations   

  • mTORC1 Inhibitors: Medications like everolimus can help shrink kidney tumors and prevent complications. These are often preferred over surgery.

  • Surgical Options: In some cases, surgery may be necessary, especially if the kidney tumors are large or causing symptoms.

  • Interventional Radiology: Minimally invasive procedures like embolization can be used to treat bleeding tumors.

     
Genetic Considerations   

  • Genetic Testing: Doctors recommend genetic testing for all individuals with TSC to identify specific gene changes in TSC1 and TSC2. This helps in understanding the condition and planning treatment.

  • Family Screening: If a genetic change is found in someone with TSC, their immediate family members should also be evaluated and may need genetic testing.

     
Multidisciplinary Care   Managing TSC requires a team approach, involving specialists in different areas. This ensures that all aspects of the disease are addressed, improving the overall care and outcomes for patients with TSC.
     
Conclusion   The goal of these recommendations is to guide healthcare providers in managing kidney involvement in TSC more effectively. By following these guidelines, doctors can help reduce the risk of complications and improve the quality of life for patients with TSC.

REFERENCE

Mekahli, D., Müller, RU., Marlais, M. et al. Nat Rev Nephrol 20, 402–420 (2024). doi.org/10.1038/s41581-024-00818-0