Improvement in Renal Cystic Disease of Tuberous Sclerosis Complex After Treatment with Mammalian Target of Rapamycin Inhibitor

J Pediatr. 2017 Aug:187:318-322.e2. doi: 10.1016/j.jpeds.2017.05.015. Epub 2017 Jun 7.


Renal cysts occur in approximately 50% of patients with tuberous sclerosis complex, but their clinical significance and response to treatment are unknown. Abdominal imaging of 15 patients with tuberous sclerosis complex-associated renal cystic disease who had received mammalian target of rapamycin inhibitor therapy for other tuberous sclerosis complex-related indications was evaluated. Reductions in cyst number, sum diameter, and volume were observed.

Keywords: autosomal dominant polycystic kidney disease; case series; contiguous gene syndrome; subependymal giant cell astrocytoma; tuberous sclerosis complex.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, N.I.H., Extramural

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Immunosuppressive Agents / therapeutic use*
  • Infant
  • Kidney / pathology
  • Kidney Diseases, Cystic / drug therapy*
  • Kidney Diseases, Cystic / etiology
  • Magnetic Resonance Imaging
  • Male
  • Sirolimus / therapeutic use*
  • Treatment Outcome
  • Tuberous Sclerosis / complications*
  • Tuberous Sclerosis / drug therapy
  • Young Adult


  • Immunosuppressive Agents
  • Sirolimus