Tuberous sclerosis complex

Neurological, renal and pulmonary manifestations

D. N. Franz, John Bissler, F. X. McCormack

Research output: Contribution to journalReview article

80 Citations (Scopus)

Abstract

Tuberous sclerosis complex (TSC) is an important cause of epilepsy and autism, as well as renal and pulmonary disease in adults and children. Affected individuals are subject to hamartomas in various organ systems which result from constitutive activation of the protein kinase mTOR (mammalian target of rapamycin). The clinical course, prognosis and appropriate therapy for TSC patients are often different from that for individuals with epilepsy, renal tumors, or interstitial lung disease, from other causes. Additionally, TSC serves as a model for other conditions in which the mTOR pathways are also up-regulated. This article reviews the molecular pathophysiology and management of neurological, renal and pulmonary manifestations of the disorder. The use of mTOR inhibitors such as rapamycin and everolimus is discussed and recent clinical trials of these drugs in TSC are reviewed.

Original languageEnglish (US)
Pages (from-to)199-208
Number of pages10
JournalNeuropediatrics
Volume41
Issue number5
DOIs
StatePublished - Dec 1 2010

Fingerprint

Tuberous Sclerosis
Sirolimus
Kidney
Lung
Epilepsy
Hamartoma
Interstitial Lung Diseases
Autistic Disorder
Protein Kinases
Lung Diseases
Clinical Trials
Pharmaceutical Preparations
Neoplasms
Therapeutics

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

Cite this

Tuberous sclerosis complex : Neurological, renal and pulmonary manifestations. / Franz, D. N.; Bissler, John; McCormack, F. X.

In: Neuropediatrics, Vol. 41, No. 5, 01.12.2010, p. 199-208.

Research output: Contribution to journalReview article

Franz, D. N. ; Bissler, John ; McCormack, F. X. / Tuberous sclerosis complex : Neurological, renal and pulmonary manifestations. In: Neuropediatrics. 2010 ; Vol. 41, No. 5. pp. 199-208.
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