结节性硬化精准治疗与随访研究进展_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：

癫痫; 结节性硬化; 雷帕霉素

DOI：

10.7507/2096-0247.202210009

Video：

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结节性硬化（Tuberous sclerosis complex，TSC）是一种罕见的常染色体显性遗传性病，常在儿童期起病。结节性硬化致病基因是TSC1和TSC2基因，其临床特点包括癫痫发作、特征性皮肤改变及多系统肿瘤，TSC治疗手段主要有抗癫痫发作治疗、功能康复治疗、TSC相关神经精神异常（Tuberous sclerosis associated neuropsychiatric disorders，TAND）相关的行为治疗以及各部位结节的外科手术治疗，mTOR抑制剂是该病的精准治疗药物，对肿瘤增长和癫痫发作有显著的改善作用。该文对近年结节性硬化精准治疗与随访文献进行综述，探讨结节性硬化精准治疗与随访研究的进展。

Citation： 李登峰, 朱婷婷. 结节性硬化精准治疗与随访研究进展. 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.	张世敏, 秦炯. 雷帕霉素及其衍生物治疗结节性硬化症研究进展. 中国实用儿科杂志, 2019, 34(1): 67-70.
5.	邹丽萍, 刘玉洁, 庞领玉, 等. 雷帕霉素治疗儿童结节性硬化症合并癫痫的临床效果及安全性观察. 中华儿科杂志, 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.	庞领玉, 邹丽萍, 黄露露, 等. 雷帕霉素治疗儿童结节性硬化相关心脏横纹肌瘤的临床效果. 中华儿科杂志, 2016, 54(06): 424-427.
8.	敦硕, 邹丽萍, 张梦娜, 等. 雷帕霉素对儿童结节性硬化症相关肾脏疾病的疗效观察. 中华儿科杂志, 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, 叶琦, 李思婵, 等. 西罗莫司治疗儿童结节性硬化症的个体化给药研究进展. 儿科药学杂志, 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. 张世敏, 秦炯. 雷帕霉素及其衍生物治疗结节性硬化症研究进展. 中国实用儿科杂志, 2019, 34(1): 67-70.
5. 邹丽萍, 刘玉洁, 庞领玉, 等. 雷帕霉素治疗儿童结节性硬化症合并癫痫的临床效果及安全性观察. 中华儿科杂志, 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. 庞领玉, 邹丽萍, 黄露露, 等. 雷帕霉素治疗儿童结节性硬化相关心脏横纹肌瘤的临床效果. 中华儿科杂志, 2016, 54(06): 424-427.
8. 敦硕, 邹丽萍, 张梦娜, 等. 雷帕霉素对儿童结节性硬化症相关肾脏疾病的疗效观察. 中华儿科杂志, 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, 叶琦, 李思婵, 等. 西罗莫司治疗儿童结节性硬化症的个体化给药研究进展. 儿科药学杂志, 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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