Tuberous sclerosis complex: the past and the future

Pediatr Nephrol. 2015 Oct;30(10):1771-80. doi: 10.1007/s00467-014-3027-9. Epub 2014 Dec 23.

Abstract

Renal lesions represent the second most significant cause of morbidity and mortality in patients with tuberous sclerosis complex (TSC). Recent advances in the understanding of the pathophysiology of TSC have led to the exploration of new potential therapeutic targets. Clinical trials with mammalian target of rapamycin (mTOR) inhibitors have demonstrated promising results for several indications, such as renal angiomyolipoma, subependymal giant cell astrocytoma, lymphangioleiomyomatosis and facial angiofibromas. Currently, there is a scarcity of natural history data and randomized, placebo-controlled clinical trials on TSC. Recently, however, recommendations for the diagnostic criteria, surveillance, and management of TSC patients have been updated. This review focuses on these novel recommendations and highlights the need for multidisciplinary follow-up of this multi-systemic disease.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Diagnostic Imaging
  • Disease Management*
  • Humans
  • Kidney Diseases* / diagnosis
  • Kidney Diseases* / etiology
  • Kidney Diseases* / therapy
  • Prognosis
  • Tuberous Sclerosis* / complications
  • Tuberous Sclerosis* / diagnosis
  • Tuberous Sclerosis* / therapy