PMID- 23812052
OWN - NLM
STAT- MEDLINE
DCOM- 20140227
LR  - 20151119
IS  - 1945-2810 (Electronic)
IS  - 0888-0395 (Linking)
VI  - 45
IP  - 4
DP  - 2013 Aug
TI  - Nursing implications for the lifelong management of tuberous sclerosis complex.
PG  - 226-42
LID - 10.1097/JNN.0b013e3182986146 [doi]
AB  - Tuberous sclerosis complex (TSC) is a genetic disorder that can affect multiple 
      organ systems, including the brain, heart, skin, kidney, and lung, by formation 
      of benign hamartomas. It can be associated with autism, epilepsy, and other 
      neurocognitive and behavioral disabilities. The incidence of TSC is approximately 
      1 in 6,000 live births, but it may be underdiagnosed. Mutations to either the 
      TSC1 (coding for hamartin) or TSC2 (coding for tuberin) genes are present in 85% 
      of patients with TSC. The TSC1/TSC2 protein dimer complex is a crucial inhibitory 
      element in the mammalian target of rapamycin (mTOR) complex 1 pathway that 
      regulates cell growth and proliferation. The manifestations of TSC usually 
      require management over the entire life of the patient. Until recently, there 
      were few options, other than surgical removal, for treating the symptoms of TSC 
      related to growth of hamartomas. Increased understanding of the genetic cause of 
      the disease and the underlying dysregulation of the mTOR pathway has led to 
      clinical trials of mTOR inhibitors including sirolimus and everolimus. This 
      article will review the various manifestations of TSC and describe treatment 
      strategies, recommendations for surveillance, and use of mTOR inhibitors in their 
      management.
FAU - Agricola, Karen
AU  - Agricola K
AD  - Tuberous Sclerosis Clinic, Cincinnati Children's Hospital Medical Center, 
      Cincinnati, OH, USA. TSclinic@cchmc.org
FAU - Tudor, Cindy
AU  - Tudor C
FAU - Krueger, Darcy
AU  - Krueger D
FAU - Franz, David Neal
AU  - Franz DN
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
PL  - United States
TA  - J Neurosci Nurs
JT  - The Journal of neuroscience nursing : journal of the American Association of 
      Neuroscience Nurses
JID - 8603596
RN  - 0 (Immunosuppressive Agents)
RN  - 9HW64Q8G6G (Everolimus)
RN  - W36ZG6FT64 (Sirolimus)
SB  - IM
MH  - Everolimus
MH  - Humans
MH  - Immunosuppressive Agents/*therapeutic use
MH  - Incidence
MH  - Sirolimus/*analogs & derivatives/*therapeutic use
MH  - Tuberous Sclerosis/*drug therapy/epidemiology/*nursing
EDAT- 2013/07/03 06:00
MHDA- 2014/02/28 06:00
CRDT- 2013/07/02 06:00
PHST- 2013/07/02 06:00 [entrez]
PHST- 2013/07/03 06:00 [pubmed]
PHST- 2014/02/28 06:00 [medline]
AID - 01376517-201308000-00008 [pii]
AID - 10.1097/JNN.0b013e3182986146 [doi]
PST - ppublish
SO  - J Neurosci Nurs. 2013 Aug;45(4):226-42. doi: 10.1097/JNN.0b013e3182986146.