結節性硬化精準治療與隨訪研究進展_Journal of Epilepsy

Authors：

李登峰 ^1,2 ,  朱婷婷 ^1,2

1. ;
2. ;

Corresponding?author：

朱婷婷, Email: 1021517287@qq.com

Keywords：

癲癇; 結節性硬化; 雷帕霉素

DOI：

10.7507/2096-0247.202210009

Video：

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結節性硬化（Tuberous sclerosis complex，TSC）是一種罕見的常染色體顯性遺傳性病，常在兒童期起病。結節性硬化致病基因是TSC1和TSC2基因，其臨床特點包括癲癇發作、特征性皮膚改變及多系統腫瘤，TSC治療手段主要有抗癲癇發作治療、功能康復治療、TSC相關神經精神異常（Tuberous sclerosis associated neuropsychiatric disorders，TAND）相關的行為治療以及各部位結節的外科手術治療，mTOR抑制劑是該病的精準治療藥物，對腫瘤增長和癲癇發作有顯著的改善作用。該文對近年結節性硬化精準治療與隨訪文獻進行綜述，探討結節性硬化精準治療與隨訪研究的進展。

Citation： 李登峰, 朱婷婷. 結節性硬化精準治療與隨訪研究進展. Journal of Epilepsy, 2023, 9(2): 124-127. doi: 10.7507/2096-0247.202210009 Copy

1.	Randle SC. Tuberous sclerosis complex: a review. Pediatr Ann, 2017, 46(4): e166-e171.
2.	Curatolo P, Moavero R, de Vries PJ. Neurological and neuropsychiatric aspects of tuberous sclerosis complex. The Lancet Neurology, 2015, 14(7): 733-745.
3.	Bialer M, Johannessen SI, Levy RH, et al. Progress report on new antiepileptic drugs: a summary of the Thirteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XIII). Epilepsia, 2017, 58(2): 181-221.
4.	張世敏, 秦炯. 雷帕霉素及其衍生物治療結節性硬化癥研究進展. 中國實用兒科雜志, 2019, 34(1): 67-70.
5.	鄒麗萍, 劉玉潔, 龐領玉, 等. 雷帕霉素治療兒童結節性硬化癥合并癲癇的臨床效果及安全性觀察. 中華兒科雜志, 2014, 52(11): 812-816.
6.	Overwater IE, Rietman AB, Bindels-De Heus K, et al. Sirolimus for epilepsy in children with tuberous sclerosis complex: a randomized controlled trial. Neurology, 2016, 87(10): 1011-1018.
7.	龐領玉, 鄒麗萍, 黃露露, 等. 雷帕霉素治療兒童結節性硬化相關心臟橫紋肌瘤的臨床效果. 中華兒科雜志, 2016, 54(06): 424-427.
8.	敦碩, 鄒麗萍, 張夢娜, 等. 雷帕霉素對兒童結節性硬化癥相關腎臟疾病的療效觀察. 中華兒科雜志, 2019, 57(11): 852-856.
9.	Northrup H, Aronow ME, Bebin e M, et al. Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations. Pediatr Neurol, 2021, 123: 50-66.
10.	Lechuga L, Franz DN. Everolimus as adjunctive therapy for tuberous sclerosis complex-associated partial-onset seizures. Expert Rev Neurother, 2019, 19(10): 913-925.
11.	Krueger DA, Wilfong AA, Mays M, et al. Long-term treatment of epilepsy with everolimus in tuberous sclerosis. Neurology, 2016, 87(23): 2408-2415.
12.	Samueli S, Abraham K, Dressler A, et al. Efficacy and safety of Everolimus in children with TSC - associated epilepsy - Pilot data from an open single-center prospective study. Orphanet J Rare Dis, 2016, 11(1): 145-152.
13.	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. The Lancet, 2016, 388(10056): 2153-2163.
14.	Tomoto K, Fujimoto A, Lnenaga C, et al. Experience using mTOR inhibitors for subependymal giant cell astrocytoma in tuberous sclerosis complex at a single facility. BMC Neurol, 2021, 21(1): 139-145.
15.	Franz DN, Agricola K, Mays M, et al. Everolimus for subependymal giant cell astrocytoma: 5-year final analysis. Ann Neurol, 2015, 78(6): 929-938.
16.	Wei CC, Tsai JD, Sheu JN, et al. Continuous low-dose everolimus shrinkage tuberous sclerosis complex-associated renal angiomyolipoma: a 48-month follow-up study. J Investig Med, 2019, 67(3): 686-690.
17.	Kingswood JC, Jozwiak S, Belousova ED, et al. The effect of everolimus on renal angiomyolipoma in patients with tuberous sclerosis complex being treated for subependymal giant cell astrocytoma: subgroup results from the randomized, placebo-controlled, Phase 3 trial EXIST-1. Nephrol Dial Transplant, 2014, 29(6): 1203-1210.
18.	Li M, Zhou Y, Chen C, et al. Efficacy and safety of mTOR inhibitors (rapamycin and its analogues) for tuberous sclerosis complex: a meta-analysis. Orphanet J Rare Dis, 2019, 14(1): 39-48.
19.	Aw F, Goyer I, Raboisson MJ, et al. Accelerated cardiac rhabdomyoma regression with everolimus in infants with tuberous sclerosis complex. Pediatr Cardiol, 2017, 38(2): 394-400.
20.	Kilincaslan A, Kok BE, Tekturk P, et al. Beneficial effects of everolimus on autism and attention-deficit/hyperactivity disorder symptoms in a group of patients with tuberous sclerosis complex. J Child Adolesc Psychopharmacol, 2017, 27(4): 383-388.
21.	汪洋, 葉琦, 李思嬋, 等. 西羅莫司治療兒童結節性硬化癥的個體化給藥研究進展. 兒科藥學雜志, 2019, 25(12): 46-51.
22.	Rovira A, Ruiz-Falco ML, Garcia-Esparza E, et al. Recommendations for the radiological diagnosis and follow-up of neuropathological abnormalities associated with tuberous sclerosis complex. Journal of Neuro-oncology, 2014, 118(2): 205-223.
23.	Amin S, Lux A, Calder N, et al. Causes of mortality in individuals with tuberous sclerosis complex. Dev Med Child Neurol, 2017, 59(6): 612-617.
24.	Amin S, Kingswood JC, Bolton PF, et al. The UK guidelines for management and surveillance of Tuberous Sclerosis Complex. QJM, 2019, 112(3): 171-182.
25.	Ariceta G, Buj MJ, Furlano M, et al. Recommendations for the management of renal involvement in the tuberous sclerosis complex. Nefrologia (Engl Ed), 2020, 40(2): 142-151.
26.	Rouviere O, Nivet H, Grenier N, et al. Kidney damage due to tuberous sclerosis complex: management recommendations. Diagnostic and interventional imaging, 2013, 94(3): 225-237.
27.	Johnson SR. The ERS guidelines for LAM: trying a rationale approach to a rare disease. Respiratory Medicine, 2010, 104(Suppl 1): S33-S41.
28.	Hinton RB, Prakash A, Romp RL, et al. Cardiovascular manifestations of tuberous sclerosis complex and summary of the revised diagnostic criteria and surveillance and management recommendations from the International Tuberous Sclerosis Consensus Group. Journal of the American Heart Association, 2014, 3(6): e001493.

1. Randle SC. Tuberous sclerosis complex: a review. Pediatr Ann, 2017, 46(4): e166-e171.
2. Curatolo P, Moavero R, de Vries PJ. Neurological and neuropsychiatric aspects of tuberous sclerosis complex. The Lancet Neurology, 2015, 14(7): 733-745.
3. Bialer M, Johannessen SI, Levy RH, et al. Progress report on new antiepileptic drugs: a summary of the Thirteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XIII). Epilepsia, 2017, 58(2): 181-221.
4. 張世敏, 秦炯. 雷帕霉素及其衍生物治療結節性硬化癥研究進展. 中國實用兒科雜志, 2019, 34(1): 67-70.
5. 鄒麗萍, 劉玉潔, 龐領玉, 等. 雷帕霉素治療兒童結節性硬化癥合并癲癇的臨床效果及安全性觀察. 中華兒科雜志, 2014, 52(11): 812-816.
6. Overwater IE, Rietman AB, Bindels-De Heus K, et al. Sirolimus for epilepsy in children with tuberous sclerosis complex: a randomized controlled trial. Neurology, 2016, 87(10): 1011-1018.
7. 龐領玉, 鄒麗萍, 黃露露, 等. 雷帕霉素治療兒童結節性硬化相關心臟橫紋肌瘤的臨床效果. 中華兒科雜志, 2016, 54(06): 424-427.
8. 敦碩, 鄒麗萍, 張夢娜, 等. 雷帕霉素對兒童結節性硬化癥相關腎臟疾病的療效觀察. 中華兒科雜志, 2019, 57(11): 852-856.
9. Northrup H, Aronow ME, Bebin e M, et al. Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations. Pediatr Neurol, 2021, 123: 50-66.
10. Lechuga L, Franz DN. Everolimus as adjunctive therapy for tuberous sclerosis complex-associated partial-onset seizures. Expert Rev Neurother, 2019, 19(10): 913-925.
11. Krueger DA, Wilfong AA, Mays M, et al. Long-term treatment of epilepsy with everolimus in tuberous sclerosis. Neurology, 2016, 87(23): 2408-2415.
12. Samueli S, Abraham K, Dressler A, et al. Efficacy and safety of Everolimus in children with TSC - associated epilepsy - Pilot data from an open single-center prospective study. Orphanet J Rare Dis, 2016, 11(1): 145-152.
13. 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. The Lancet, 2016, 388(10056): 2153-2163.
14. Tomoto K, Fujimoto A, Lnenaga C, et al. Experience using mTOR inhibitors for subependymal giant cell astrocytoma in tuberous sclerosis complex at a single facility. BMC Neurol, 2021, 21(1): 139-145.
15. Franz DN, Agricola K, Mays M, et al. Everolimus for subependymal giant cell astrocytoma: 5-year final analysis. Ann Neurol, 2015, 78(6): 929-938.
16. Wei CC, Tsai JD, Sheu JN, et al. Continuous low-dose everolimus shrinkage tuberous sclerosis complex-associated renal angiomyolipoma: a 48-month follow-up study. J Investig Med, 2019, 67(3): 686-690.
17. Kingswood JC, Jozwiak S, Belousova ED, et al. The effect of everolimus on renal angiomyolipoma in patients with tuberous sclerosis complex being treated for subependymal giant cell astrocytoma: subgroup results from the randomized, placebo-controlled, Phase 3 trial EXIST-1. Nephrol Dial Transplant, 2014, 29(6): 1203-1210.
18. Li M, Zhou Y, Chen C, et al. Efficacy and safety of mTOR inhibitors (rapamycin and its analogues) for tuberous sclerosis complex: a meta-analysis. Orphanet J Rare Dis, 2019, 14(1): 39-48.
19. Aw F, Goyer I, Raboisson MJ, et al. Accelerated cardiac rhabdomyoma regression with everolimus in infants with tuberous sclerosis complex. Pediatr Cardiol, 2017, 38(2): 394-400.
20. Kilincaslan A, Kok BE, Tekturk P, et al. Beneficial effects of everolimus on autism and attention-deficit/hyperactivity disorder symptoms in a group of patients with tuberous sclerosis complex. J Child Adolesc Psychopharmacol, 2017, 27(4): 383-388.
21. 汪洋, 葉琦, 李思嬋, 等. 西羅莫司治療兒童結節性硬化癥的個體化給藥研究進展. 兒科藥學雜志, 2019, 25(12): 46-51.
22. Rovira A, Ruiz-Falco ML, Garcia-Esparza E, et al. Recommendations for the radiological diagnosis and follow-up of neuropathological abnormalities associated with tuberous sclerosis complex. Journal of Neuro-oncology, 2014, 118(2): 205-223.
23. Amin S, Lux A, Calder N, et al. Causes of mortality in individuals with tuberous sclerosis complex. Dev Med Child Neurol, 2017, 59(6): 612-617.
24. Amin S, Kingswood JC, Bolton PF, et al. The UK guidelines for management and surveillance of Tuberous Sclerosis Complex. QJM, 2019, 112(3): 171-182.
25. Ariceta G, Buj MJ, Furlano M, et al. Recommendations for the management of renal involvement in the tuberous sclerosis complex. Nefrologia (Engl Ed), 2020, 40(2): 142-151.
26. Rouviere O, Nivet H, Grenier N, et al. Kidney damage due to tuberous sclerosis complex: management recommendations. Diagnostic and interventional imaging, 2013, 94(3): 225-237.
27. Johnson SR. The ERS guidelines for LAM: trying a rationale approach to a rare disease. Respiratory Medicine, 2010, 104(Suppl 1): S33-S41.
28. Hinton RB, Prakash A, Romp RL, et al. Cardiovascular manifestations of tuberous sclerosis complex and summary of the revised diagnostic criteria and surveillance and management recommendations from the International Tuberous Sclerosis Consensus Group. Journal of the American Heart Association, 2014, 3(6): e001493.

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