Öz
Kaynakça
- Northrup H, Krueger DA, International Tuberous Sclerosis Complex Consensus Group. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational tuberous sclerosis Complex Consensus Conference. Pediatr Neurol. 2013;49(4):243-254. doi: 10.1016/j.pediatrneurol.2013.08.001.
- Randle SC. Tuberous sclerosis complex: a review. Pediatr Ann. 2017 April 1;46(4):e166-e171. doi: 10.3928/19382359-20170320-01.
- Roach ES. Applying the lessons of tuberous sclerosis: the 2015 Hower award lecture. Pediatr Neurol. 2016;63:6-22. doi: 10.1016/j.pediatrneurol.2016.07.003.
- Caban C, Khan N, Hasbani DM, Crino PB. Genetics of tuberous sclerosis complex: implications for clinical practice. Appl Clin Genet. 2017;10:1-8. doi: 10.2147/TACG.S90262.
- French JA, Lawson JA, Yapici Z et al. Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study. Lancet. 2016;388(10056):2153-2163. doi: 10.1016/S0140-6736(16)31419-2.
- Curatolo P, Nabbout R, Lagae L et al. Management of epilepsy associated with tuberous sclerosis complex: Updated clinical recommendations. Eur J Paediatr Neurol. 2018;22(5):738-748. doi: 10.1016/j.ejpn.2018.05.006.
- Ess KC, Franz DN. Everolimus for cognition/autism in children with tuberous sclerosis complex: Definitive outcomes deferred. Neurology. 2019;93(2):51-52. doi: 10.1212/WNL.0000000000007744.
- Krueger DA, Care MM, Holland K, Agricola K, Tudor C, Mangeshkar P, Wilson KA, Byars A, Sahmoud T, Franz DN. Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis. N Engl J Med. 2010;363(19):1801-11. doi: 10.1056/NEJMoa1001671.
- Krueger DA, Wilfong AA, Holland-Bouley K, Anderson AE, Agricola K, Tudor C, Mays M, Lopez CM, Kim MO, Franz DN. Everolimus treatment of refractory epilepsy in tuberous sclerosis complex. Ann Neurol. 2013;74(5):679-87. doi: 10.1002/ana.23960.
- Bissler JJ, Kingswood JC, Radzikowska E et al. Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial. Lancet. 2013;381(9869):817-824. doi: 10.1016/S0140-6736(12)61767-X.
- Fukutomi E, Kimura Y, Wada T, Okumiya K, Matsubayashi K Long-term care prevention project in Japan. Lancet. 2013;381(9861):116. doi: 10.1016/S0140-6736(12)61134-9
- de Vries PJ, Wilde L, de Vries MC, Moavero R, Pearson DA, Curatolo P. A clinical update on tuberous sclerosis complex-associated neuropsychiatric disorders (TAND). Am J Med Genet C Semin Med Genet. 2018;178(3):309-320. doi: 10.1002/ajmg.c.31637.
- Ryskalin L, Limanaqi F, Frati A, Busceti CL, Fornai F. mTOR-related brain dysfunctions in neuropsychiatric disorders. Int J Mol Sci. 2018;19(8):2226. doi: 10.3390/ijms19082226.
- McCormack FX, Inoue Y, Moss J et al. Efficacy and safety of sirolimus in lymphangioleiomyomatosis. N Engl J Med. 2011;364(17):1595-1606. doi: 10.1056/NEJMoa1100391.
- Lechuga L, Franz DN. Everolimus as adjunctive therapy for tuberous sclerosis complex-associated partial-onset seizures. Expert Rev Neurother. 2019;19(10):913-925. doi: 10.1080/14737175.2019.1635457.
Öz
Tüberoskleroz kompleksi, vücudun tüm sistemlerinde görülebilen hamartomlar ve deri lezyonları ile kendini gösteren, otozomal dominant geçişli, multisistemik bir nörokutanöz hastalıktır. TSC1 ve TSC2 genlerindeki mutasyonlar nedeniyle mTOR yolağının inhibisyonun inaktivasyonu, hastalığın klinik ve patolojik bulgularına neden olmaktadır. Epilepsi, tüberoskleroz kompleksi seyrinde en sık görülen klinik bulgudur ve genellikle konvansiyonel antiepileptiklere dirençli nöbetler ile seyretmektedir. Everolimus, daha önce tüberoskleroz kompleksindeki hamartomların ve nöbetlerin tedavisinde kullanılan hastalık modifiye edici etkisi olan bir mTOR inhibitör ajanıdır ve son yıllarda tuberoskleroz kompleksine bağlı dirençli epilepsi tedavisinde giderek artan bir şekilde kullanılmaktadır. Bu çalışmada, kliniğimizde tüberoskleroz kompleksi ve dirençli epilepsi tanıları ile izlenen ve everolimus tedavisi verdiğimiz 3 hastanın tedavi yanıtını ve klinik bulgularını değerlendirdik.
Anahtar Kelimeler
Tuberous sclerosis complex epilepsy everolimus mTOR inhibitors
Kaynakça
- Northrup H, Krueger DA, International Tuberous Sclerosis Complex Consensus Group. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational tuberous sclerosis Complex Consensus Conference. Pediatr Neurol. 2013;49(4):243-254. doi: 10.1016/j.pediatrneurol.2013.08.001.
- Randle SC. Tuberous sclerosis complex: a review. Pediatr Ann. 2017 April 1;46(4):e166-e171. doi: 10.3928/19382359-20170320-01.
- Roach ES. Applying the lessons of tuberous sclerosis: the 2015 Hower award lecture. Pediatr Neurol. 2016;63:6-22. doi: 10.1016/j.pediatrneurol.2016.07.003.
- Caban C, Khan N, Hasbani DM, Crino PB. Genetics of tuberous sclerosis complex: implications for clinical practice. Appl Clin Genet. 2017;10:1-8. doi: 10.2147/TACG.S90262.
- French JA, Lawson JA, Yapici Z et al. Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study. Lancet. 2016;388(10056):2153-2163. doi: 10.1016/S0140-6736(16)31419-2.
- Curatolo P, Nabbout R, Lagae L et al. Management of epilepsy associated with tuberous sclerosis complex: Updated clinical recommendations. Eur J Paediatr Neurol. 2018;22(5):738-748. doi: 10.1016/j.ejpn.2018.05.006.
- Ess KC, Franz DN. Everolimus for cognition/autism in children with tuberous sclerosis complex: Definitive outcomes deferred. Neurology. 2019;93(2):51-52. doi: 10.1212/WNL.0000000000007744.
- Krueger DA, Care MM, Holland K, Agricola K, Tudor C, Mangeshkar P, Wilson KA, Byars A, Sahmoud T, Franz DN. Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis. N Engl J Med. 2010;363(19):1801-11. doi: 10.1056/NEJMoa1001671.
- Krueger DA, Wilfong AA, Holland-Bouley K, Anderson AE, Agricola K, Tudor C, Mays M, Lopez CM, Kim MO, Franz DN. Everolimus treatment of refractory epilepsy in tuberous sclerosis complex. Ann Neurol. 2013;74(5):679-87. doi: 10.1002/ana.23960.
- Bissler JJ, Kingswood JC, Radzikowska E et al. Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial. Lancet. 2013;381(9869):817-824. doi: 10.1016/S0140-6736(12)61767-X.
- Fukutomi E, Kimura Y, Wada T, Okumiya K, Matsubayashi K Long-term care prevention project in Japan. Lancet. 2013;381(9861):116. doi: 10.1016/S0140-6736(12)61134-9
- de Vries PJ, Wilde L, de Vries MC, Moavero R, Pearson DA, Curatolo P. A clinical update on tuberous sclerosis complex-associated neuropsychiatric disorders (TAND). Am J Med Genet C Semin Med Genet. 2018;178(3):309-320. doi: 10.1002/ajmg.c.31637.
- Ryskalin L, Limanaqi F, Frati A, Busceti CL, Fornai F. mTOR-related brain dysfunctions in neuropsychiatric disorders. Int J Mol Sci. 2018;19(8):2226. doi: 10.3390/ijms19082226.
- McCormack FX, Inoue Y, Moss J et al. Efficacy and safety of sirolimus in lymphangioleiomyomatosis. N Engl J Med. 2011;364(17):1595-1606. doi: 10.1056/NEJMoa1100391.
- Lechuga L, Franz DN. Everolimus as adjunctive therapy for tuberous sclerosis complex-associated partial-onset seizures. Expert Rev Neurother. 2019;19(10):913-925. doi: 10.1080/14737175.2019.1635457.
Ayrıntılar
| Birincil Dil | İngilizce |
|---|---|
| Konular | Nöroloji ve Nöromüsküler Hastalıklar |
| Bölüm | Olgu Sunumu |
| Yazarlar | |
| Yayımlanma Tarihi | 21 Ekim 2023 |
| Gönderilme Tarihi | 21 Haziran 2022 |
| Kabul Tarihi | 15 Eylül 2023 |
| Yayımlandığı Sayı | Yıl 2023 Cilt: 6 Sayı: 3 |
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