复合型结节性硬化病

Northrup H, Aronow ME, Bebin EM, et al. Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations. Pediatr Neurol. 2021 Oct;123:50-66.全文  摘要

Caban C, Khan N, Hasbani DM, et al. Genetics of tuberous sclerosis complex: implications for clinical practice. Appl Clin Genet. 2016 Dec 21;10:1-8.全文  摘要

Amin S, Kingswood JC, Bolton PF, et al. The UK guidelines for management and surveillance of tuberous sclerosis complex. QJM. 2019 Mar 1;112(3):171-82.全文  摘要

Thiele EA, Bebin EM, Bhathal H, et al. Add-on cannabidiol treatment for drug-resistant seizures in tuberous sclerosis complex: a placebo-controlled randomized clinical trial. JAMA Neurol. 2021 Mar 1;78(3):285-92. 摘要

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 Feb 13;14(1):39.全文  摘要

Gao N, Zhang T, Ji J, et al. The efficacy and adverse events of mTOR inhibitors in lymphangioleiomyomatosis: systematic review and meta-analysis. Orphanet J Rare Dis. 2018 Aug 14;13(1):134.全文  摘要

de Vries P, Humphrey A, McCartney D, et al. Consensus clinical guidelines for the assessment of cognitive and behavioural problems in tuberous sclerosis. Eur Child Adolesc Psychiatry. 2005 Jul;14(4):183-90. 摘要

1. Northrup H, Aronow ME, Bebin EM, et al. Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations. Pediatr Neurol. 2021 Oct;123:50-66.全文  摘要

2. Gomez M, Sampson J, Whittemore V, eds. The tuberous sclerosis complex. Oxford: Oxford University Press; 1999.

3. Hyman MH, Whittemore VH. National Institutes of Health consensus conference: tuberous sclerosis complex. Arch Neurol. 2000 May;57(5):662-5. 摘要

4. Caban C, Khan N, Hasbani DM, et al. Genetics of tuberous sclerosis complex: implications for clinical practice. Appl Clin Genet. 2016 Dec 21;10:1-8.全文  摘要

5. Au KS, Williams AT, Roach ES, et al. Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. Genet Med. 2007;9:88-100. 摘要

6. van Slegtenhorst M, de Hoogt R, Hermans C, et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science. 1997;277:805-8. 摘要

7. Sampson JR, Scahill SJ, Stephenson JB, et al. Genetic aspects of tuberous sclerosis in the west of Scotland. J Med Genet. 1989 Jan;26(1):28-31. 摘要

8. O'Callaghan FJ, Shiell AW, Osborne JP, et al. Prevalence of tuberous sclerosis estimated by capture-recapture analysis. Lancet. 1998 May 16;351(9114):1490. 摘要

9. Tyburczy ME, Dies KA, Glass J, et al. Mosaic and intronic mutations in TSC1/TSC2 explain the majority of TSC patients with no mutation identified by conventional testing. PLoS Genet. 2015 Nov;11(11):e1005637.全文  摘要

10. Amin S, Kingswood JC, Bolton PF, et al. The UK guidelines for management and surveillance of tuberous sclerosis complex. QJM. 2019 Mar 1;112(3):171-82.全文  摘要

11. Dabora SL, Jozwiak S, Franz DN, et al. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared to TSC1, disease in multiple organs. Am J Hum Genet. 2001 Jan;68(1):64-80.全文  摘要

12. Tee AR, Fingar DC, Manning BD, et al. Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling. Proc Natl Acad Sci USA. 2002;99:13571-6.全文  摘要

13. Mak BC, Yeung RS. The tuberous sclerosis complex genes in tumor development. Cancer Invest. 2004;22:588-603. 摘要

14. de Vries PJ, Whittemore VH, Leclezio L, et al. Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND Checklist. Pediatr Neurol. 2015 Jan;52(1):25-35.全文  摘要

15. Leclezio L, Jansen A, Whittemore VH, et al. Pilot validation of the tuberous sclerosis-associated neuropsychiatric disorders (TAND) checklist. Pediatr Neurol. 2015 Jan;52(1):16-24.全文  摘要

16. Thiele EA. Managing epilepsy in tuberous sclerosis complex. J Child Neurol. 2004 Sep;19(9):680-6. 摘要

17. DiMario FJ Jr. Brain abnormalities in tuberous sclerosis complex. J Child Neurol. 2004 Sep;19(9):650-7. 摘要

18. The European Consortium on MEN1: Construction of a 1.2-Mb sequence-ready contig of chromosome 11q13 encompassing the multiple endocrine neoplasia type 1 (MEN1) gene. Genomics. 1997 Aug 15;44(1):94-100. 摘要

19. Franz DN. Non-neurologic manifestations of tuberous sclerosis complex. J Child Neurol. 2004 Sep;19(9):690-8. 摘要

20. Devroede G, Lemieux B, Masse S, et al. Colonic hamartomas in tuberous sclerosis. Gastroenterology. 1988 Jan;94(1):182-8. 摘要

21. Wiznitzer M. Autism and tuberous sclerosis. J Child Neurol. 2004 Sep;19(9):675-9. 摘要

22. Prather P, de Vries PJ. Behavioral and cognitive aspects of tuberous sclerosis complex. J Child Neurol. 2004 Sep;19(9):666-74. 摘要

23. Jie L, Volney S. Periventricular heterotopia. Epilepsy Behav. 2005 Sep;7(2):143-9. 摘要

24. Parrini E. Periventricular heterotopia; phenotypic heterogeneity and correlation with filamin A mutations. Brain. 2006 Jul;129(Pt 7):1892-906. 摘要

25. Darling TN, Skarulis MC, Steinberg SM, et al. Multiple facial angiofibromas and collagenomas in patients with multiple endocrine neoplasia type 1. Arch Derm. 1997 Jul;133(7):853-7. 摘要

26. Spring P, Fellmann F, Giraud S, et al. Syndrome of Birt-Hogg-Dubé, a histopathological pitfall with similarities to tuberous sclerosis: a report of three cases. Am J Dermatopathol. 2013 Apr;35(2):241-5. 摘要

27. Crane JP, LeFevre ML, Winborn RC, et al. A randomized trial of prenatal ultrasonographic screening: impact on the detection, management, and outcome of anomalous fetuses. The RADIUS Study Group. Am J Obstet Gynecol. 1994 Aug;171(2):392-9. 摘要

28. Gagnon A, Wilson RD, Allen VM, et al; Society of Obstetricians and Gynaecologists of Canada. Evaluation of prenatally diagnosed structural congenital anomalies. J Obstet Gynaecol Can. 2009 Sep;31(9):875-81. 摘要

29. Holmes GL, Stafstrom CE; Tuberous Sclerosis Study Group. Tuberous sclerosis complex and epilepsy: recent developments and future challenges. Epilepsia. 2007 Apr;48(4):617-30.全文  摘要

30. Hancock EC, Osborne JP, Edwards SW. Treatment of infantile spasms. Cochrane Database Syst Rev. 2013 Jun 5;(6):CD001770.全文  摘要

31. van der Poest Clement E, Jansen FE, Braun KPJ, et al. Update on drug management of refractory epilepsy in tuberous sclerosis complex. Paediatr Drugs. 2020 Feb;22(1):73-84. 摘要

32. Hancock E, Osborne JP. Vigabatrin in the treatment of infantile spasms in tuberous sclerosis: literature review. J Child Neurol. 1999 Feb;14(2):71-4. 摘要

33. Pellock JM, Hrachovy R, Shinnar S, et al. Infantile spasms: a U.S. consensus report. Epilepsia. 2010 Oct;51(10):2175-89.全文  摘要

34. Romanelli P, Verdecchia M, Curatolo P, et al. Epilepsy surgery for tuberous sclerosis. Pediatr Neurol. 2004 Oct;31(4):239-47. 摘要

35. Saneto R, Sparagana S, Kwan P, et al. Efficacy of add-on cannabidiol (CBD) treatment in patients with tuberous sclerosis complex (TSC) and a history of infantile spasms (IS): post hoc analysis of phase 3 trial GWPCARE6 (1534). Neurology. Apr 2021;96(suppl 15):1534.全文

36. Thiele EA, Bebin EM, Bhathal H, et al. Add-on cannabidiol treatment for drug-resistant seizures in tuberous sclerosis complex: a placebo-controlled randomized clinical trial. JAMA Neurol. 2021 Mar 1;78(3):285-92. 摘要

37. 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 Oct 29;388(10056):2153-63.全文  摘要

38. Park S, Lee EJ, Eom S, et al. Ketogenic diet for the management of epilepsy associated with tuberous sclerosis complex in children. J Epilepsy Res. 2017 Jun;7(1):45-9.全文  摘要

39. Jansen FE, van Huffelen AC, Algra A, et al. Epilepsy surgery in tuberous sclerosis: a systematic review. Epilepsia. 2007 Aug;48(8):1477-84.全文  摘要

40. Wang S, Fallah A. Optimal management of seizures associated with tuberous sclerosis complex: current and emerging options. Neuropsychiatr Dis Treat. 2014 Oct 23;10:2021-30.全文  摘要

41. Zhang K, Hu WH, Zhang C, et al. Predictors of seizure freedom after surgical management of tuberous sclerosis complex: a systematic review and meta-analysis. Epilepsy Res. 2013 Aug;105(3):377-83. 摘要

42. Roth J, Roach ES, Bartels U, et al. Subependymal giant cell astrocytoma: diagnosis, screening, and treatment - recommendations from the International Tuberous Sclerosis Complex Consensus Conference 2012. Pediatr Neurol. 2013 Dec;49(6):439-44. 摘要

43. 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 Feb 13;14(1):39.全文  摘要

44. Sasongko TH, Ismail NF, Zabidi-Hussin Z. Rapamycin and rapalogs for tuberous sclerosis complex. Cochrane Database Syst Rev. 2016 Jul 13;7(7):CD011272.全文  摘要

45. Franz DN, Belousova E, Sparagana S, et al. Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial. Lancet. 2013 Jan 12;381(9861):125-32. 摘要

46. Franz DN, Belousova E, Sparagana S, et al. Long-term use of everolimus in patients with tuberous sclerosis complex: final results from the EXIST-1 study. PLoS One. 2016 Jun 28;11(6):e0158476.全文  摘要

47. Koenig MK, Bell CS, Hebert AA, et al. Efficacy and safety of topical rapamycin in patients with facial angiofibromas secondary to tuberous sclerosis complex: the TREATMENT randomized clinical trial. JAMA Dermatol. 2018 Jul 1;154(7):773-80.全文  摘要

48. Wataya-Kaneda M, Ohno Y, Fujita Y, et al. Sirolimus gel treatment vs placebo for facial angiofibromas in patients with tuberous sclerosis complex: a randomized clinical trial. JAMA Dermatol. 2018 Jul 1;154(7):781-8全文  摘要

49. Jóźwiak S, Sadowski K, Kotulska K, et al. Topical use of mammalian target of rapamycin (mTOR) inhibitors in tuberous sclerosis complex - a comprehensive review of the literature. Pediatr Neurol. 2016 Aug;61:21-7. 摘要

50. 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 Mar 9;381(9869):817-24. 摘要

51. Bissler JJ, Kingswood JC, Radzikowska E, et al. Everolimus for renal angiomyolipoma in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis: extension of a randomized controlled trial. Nephrol Dial Transplant. 2016 Jan;31(1):111-9.全文  摘要

52. Peng ZF, Yang L, Wang TT, et al. Efficacy and safety of sirolimus for renal angiomyolipoma in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis: a systematic review. J Urol. 2014 Nov;192(5):1424-30. 摘要

53. Nespoli LF, Albani E, Corti C, et al. Efficacy of everolimus low-dose treatment for cardiac rhabdomyomas in neonatal tuberous sclerosis: case report and literature review. Pediatr Rep. 2021 Mar 1;13(1):104-12.全文  摘要

54. Gao N, Zhang T, Ji J, et al. The efficacy and adverse events of mTOR inhibitors in lymphangioleiomyomatosis: systematic review and meta-analysis. Orphanet J Rare Dis. 2018 Aug 14;13(1):134.全文  摘要

55. Argula RG, Kokosi M, Lo P, et al. A novel quantitative computed tomographic analysis suggests how sirolimus stabilizes progressive air trapping in lymphangioleiomyomatosis. Ann Am Thorac Soc. 2016 Mar;13(3):342-9.全文  摘要

56. Courtwright AM, Goldberg HJ, Henske EP, et al. The effect of mTOR inhibitors on respiratory infections in lymphangioleiomyomatosis. Eur Respir Rev. 2017 Jan 17;26(143):160004.全文  摘要

57. Young L, Lee HS, Inoue Y, et al. Serum VEGF-D concentration as a biomarker of lymphangioleiomyomatosis severity and treatment response: a prospective analysis of the Multicenter International Lymphangioleiomyomatosis Efficacy of Sirolimus (MILES) trial. Lancet Respir Med. 2013 Aug;1(6):445-52.全文  摘要

58. Sullivan EJ. Lymphangioleiomyomatosis: a review. Chest. 1998 Dec;114(6):1689-703. 摘要

59. Karbowniczek M, Astrinidis A, Balsara BR, et al. Recurrent lymphangiomyomatosis after transplantation: genetic analyses reveal a metastatic mechanism. Am J Respir Crit Care Med. 2003 Apr 1;167(7):976-82.全文  摘要

60. de Vries P, Humphrey A, McCartney D, et al. Consensus clinical guidelines for the assessment of cognitive and behavioural problems in tuberous sclerosis. Eur Child Adolesc Psychiatry. 2005 Jul;14(4):183-90. 摘要

61. Muzykewicz DA, Newberry P, Danforth N, et al. Psychiatric comorbid conditions in a clinic population of 241 patients with tuberous sclerosis complex. Epilepsy Behav. 2007 Dec;11(4):506-13. 摘要

62. Franz DN, Capal JK. mTOR inhibitors in the pharmacologic management of tuberous sclerosis complex and their potential role in other rare neurodevelopmental disorders. Orphanet J Rare Dis. 2017 Mar 14;12(1):51.全文  摘要

63. ClinicalTrials.gov. Trial of RAD001 and neurocognition in tuberous sclerosis complex (TSC). ClinicalTrials.gov identifier: NCT01289912. Jan 2018 [internet publication].全文

64. ClinicalTrials.gov. A study of everolimus in the treatment of neurocognitive problems in tuberous sclerosis (TRON). ClinicalTrials.gov identifier: NCT01954693. Jan 2018 [internet publication].全文

65. Berhouma M. Management of subependymal giant cell tumors in tuberous sclerosis complex: the neurosurgeon's perspective. World J Pediatr. 2010 May;6(2):103-10. 摘要

66. Hancock E, O'Callaghan F, English J, et al. Melatonin excretion in normal children and in tuberous sclerosis complex with sleep disorder responsive to melatonin. J Child Neurol. 2005 Jan;20(1):21-5. 摘要

67. Niedermeyer J. Rapamycin for recurrent LAM following lung transplantation - a first experience. Paper presented at LAM Foundation Research Conference. Apr 2003; Cincinnati, OH.

68. Wienecke R, Fackler I, Akdeli N, et al. Effective treatment of TSC with rapamycin. Unpublished data presented at TSC Conference. Sep 2004; Cambridge, UK.