메뉴 건너뛰기




Volumn 30, Issue 10, 2015, Pages 1771-1780

Tuberous sclerosis complex: the past and the future

Author keywords

Angiomyolipoma; mTOR; mTOR inhibitor; Renal cysts; Tuberous sclerosis complex

Indexed keywords

ANGIOMYOLIPOMA; ARTICLE; BRAIN DAMAGE; FOLLOW UP; HUMAN; KIDNEY CYST; KIDNEY INJURY; NEPHROLITHIASIS; PATHOPHYSIOLOGY; PATIENT CARE; PRIORITY JOURNAL; TUBEROUS SCLEROSIS; COMPLICATION; DIAGNOSTIC IMAGING; DISEASE MANAGEMENT; KIDNEY DISEASES; PROGNOSIS;

EID: 84940447512     PISSN: 0931041X     EISSN: 1432198X     Source Type: Journal    
DOI: 10.1007/s00467-014-3027-9     Document Type: Article
Times cited : (43)

References (99)
  • 2
    • 20544431744 scopus 로고    scopus 로고
    • Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype–phenotype correlations and comparison of diagnostic DNA techniques in tuberous sclerosis complex
    • COI: 1:CAS:528:DC%2BD2MXktl2rtr4%3D, PID: 15798777
    • Sancak O, Nellist M, Goedbloed M, Elfferich P, Wouters C, Maat-Kievit A, Zonnenberg B, Verhoef S, Halley D, van den Ouweland A (2005) Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype–phenotype correlations and comparison of diagnostic DNA techniques in tuberous sclerosis complex. Eur J Hum Genet 13:731–741
    • (2005) Eur J Hum Genet , vol.13 , pp. 731-741
    • Sancak, O.1    Nellist, M.2    Goedbloed, M.3    Elfferich, P.4    Wouters, C.5    Maat-Kievit, A.6    Zonnenberg, B.7    Verhoef, S.8    Halley, D.9    van den Ouweland, A.10
  • 3
    • 49649118165 scopus 로고    scopus 로고
    • Tuberous sclerosis
    • COI: 1:CAS:528:DC%2BD1cXhtVagu7jN, PID: 18722871
    • Curatolo P, Bombardieri R, Jozwiak S (2008) Tuberous sclerosis. Lancet 372:657–668
    • (2008) Lancet , vol.372 , pp. 657-668
    • Curatolo, P.1    Bombardieri, R.2    Jozwiak, S.3
  • 4
    • 81455151255 scopus 로고    scopus 로고
    • The tuberous sclerosis complex
    • COI: 1:CAS:528:DC%2BD2sXisVGit7c%3D, PID: 17005952
    • Crino PB, Nathanson KL, Henske EP (2006) The tuberous sclerosis complex. N Engl J Med 355:1345–1356
    • (2006) N Engl J Med , vol.355 , pp. 1345-1356
    • Crino, P.B.1    Nathanson, K.L.2    Henske, E.P.3
  • 5
    • 84884522817 scopus 로고    scopus 로고
    • Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference
    • International Tuberous Sclerosis Complex Consensus Group PID: 24053982
    • Northrup H, Krueger DA; International Tuberous Sclerosis Complex Consensus Group (2013) Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol 49:243–254
    • (2013) Pediatr Neurol , vol.49 , pp. 243-254
    • Northrup, H.1    Krueger, D.A.2
  • 6
    • 84884511014 scopus 로고    scopus 로고
    • Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference
    • International Tuberous Sclerosis Complex Consensus Group PID: 24053983
    • Krueger DA, Northrup H: International Tuberous Sclerosis Complex Consensus Group (2013) Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol 49:255–265
    • (2013) Pediatr Neurol , vol.49 , pp. 255-265
    • Krueger, D.A.1    Northrup, H.2
  • 7
    • 84885225587 scopus 로고    scopus 로고
    • Everolimus in the treatment of subependymal giant cell astrocytomas, angiomyolipomas, and pulmonary and skin lesions associated with tuberous sclerosis complex
    • COI: 1:CAS:528:DC%2BC3sXhs1Ois7rN, PID: 24143074
    • Franz DN (2013) Everolimus in the treatment of subependymal giant cell astrocytomas, angiomyolipomas, and pulmonary and skin lesions associated with tuberous sclerosis complex. Biologics 7:211–221
    • (2013) Biologics , vol.7 , pp. 211-221
    • Franz, D.N.1
  • 8
    • 84884510716 scopus 로고    scopus 로고
    • Tuberous sclerosis complex-associated kidney angiomyolipoma: from contemplation to action
    • PID: 23413089
    • Pirson Y (2013) Tuberous sclerosis complex-associated kidney angiomyolipoma: from contemplation to action. Nephrol Dial Transplant 28:1680–1685
    • (2013) Nephrol Dial Transplant , vol.28 , pp. 1680-1685
    • Pirson, Y.1
  • 9
    • 0023270237 scopus 로고
    • Renal lesions in tuberous sclerosis
    • COI: 1:STN:280:DyaL2szhtF2juw%3D%3D, PID: 3625844
    • Stillwell TJ, Gomez MR, Kelalis PP (1987) Renal lesions in tuberous sclerosis. J Urol 138:477–481
    • (1987) J Urol , vol.138 , pp. 477-481
    • Stillwell, T.J.1    Gomez, M.R.2    Kelalis, P.P.3
  • 10
    • 85027933361 scopus 로고    scopus 로고
    • Association between the growth rate of renal cysts/angiomyolipomas and age in the patients with tuberous sclerosis complex
    • PID: 24682862
    • Tsai JD, Wei CC, Chen SM, Lue KH, Sheu JN (2014) Association between the growth rate of renal cysts/angiomyolipomas and age in the patients with tuberous sclerosis complex. Int Urol Nephrol 46:1685–1690
    • (2014) Int Urol Nephrol , vol.46 , pp. 1685-1690
    • Tsai, J.D.1    Wei, C.C.2    Chen, S.M.3    Lue, K.H.4    Sheu, J.N.5
  • 12
    • 33750593151 scopus 로고    scopus 로고
    • Renal manifestations of tuberous sclerosis complex: incidence, prognosis, and predictive factors
    • COI: 1:STN:280:DC%2BD28nks1ahtw%3D%3D, PID: 17003820
    • Rakowski SK, Winterkorn EB, Paul E, Steele DJ, Halpern EF, Thiele EA (2006) Renal manifestations of tuberous sclerosis complex: incidence, prognosis, and predictive factors. Kidney Int 70:1777–1782
    • (2006) Kidney Int , vol.70 , pp. 1777-1782
    • Rakowski, S.K.1    Winterkorn, E.B.2    Paul, E.3    Steele, D.J.4    Halpern, E.F.5    Thiele, E.A.6
  • 13
    • 0025826613 scopus 로고
    • Renal involvement in tuberous sclerosis
    • COI: 1:STN:280:DyaK3M3kslOhtA%3D%3D, PID: 2039157
    • Bernstein J, Robbins TO (1991) Renal involvement in tuberous sclerosis. Ann N Y Acad Sci 615:36–49
    • (1991) Ann N Y Acad Sci , vol.615 , pp. 36-49
    • Bernstein, J.1    Robbins, T.O.2
  • 14
    • 0028077624 scopus 로고
    • Outcome analysis of 42 cases of renal angiomyolipoma
    • COI: 1:STN:280:DyaK2M%2Fls1Wjsw%3D%3D, PID: 7966657
    • Kennelly MJ, Grossman HB, Cho KJ (1994) Outcome analysis of 42 cases of renal angiomyolipoma. J Urol 152:1988–1991
    • (1994) J Urol , vol.152 , pp. 1988-1991
    • Kennelly, M.J.1    Grossman, H.B.2    Cho, K.J.3
  • 16
    • 0027758317 scopus 로고
    • The natural history of renal angiomyolipoma
    • COI: 1:STN:280:DyaK2c%2FkslCjug%3D%3D, PID: 8230504
    • Steiner MS, Goldman SM, Fishman EK, Marshall FF (1993) The natural history of renal angiomyolipoma. J Urol 150:1782–1786
    • (1993) J Urol , vol.150 , pp. 1782-1786
    • Steiner, M.S.1    Goldman, S.M.2    Fishman, E.K.3    Marshall, F.F.4
  • 17
    • 8144220450 scopus 로고    scopus 로고
    • An epidemiological study of renal pathology in tuberous sclerosis complex
    • PID: 15476522
    • O’Callaghan FJ, Noakes MJ, Martyn CN, Osborne JP (2004) An epidemiological study of renal pathology in tuberous sclerosis complex. BJU Int 94:853–857
    • (2004) BJU Int , vol.94 , pp. 853-857
    • O’Callaghan, F.J.1    Noakes, M.J.2    Martyn, C.N.3    Osborne, J.P.4
  • 18
    • 0032322462 scopus 로고    scopus 로고
    • Renal lesion growth in children with tuberous sclerosis complex
    • COI: 1:STN:280:DyaK1c3ptVGquw%3D%3D, PID: 9628635
    • Ewalt DH, Sheffield E, Sparagana SP, Delgado MR, Roach ES (1998) Renal lesion growth in children with tuberous sclerosis complex. J Urol 160:141–145
    • (1998) J Urol , vol.160 , pp. 141-145
    • Ewalt, D.H.1    Sheffield, E.2    Sparagana, S.P.3    Delgado, M.R.4    Roach, E.S.5
  • 19
    • 0022220823 scopus 로고
    • Diagnosis and management of renal angiomyolipoma
    • COI: 1:STN:280:DyaL2M7ptlOqsA%3D%3D, PID: 3887727
    • Pode D, Meretik S, Shapiro A, Caine M (1985) Diagnosis and management of renal angiomyolipoma. Urology 25:461–467
    • (1985) Urology , vol.25 , pp. 461-467
    • Pode, D.1    Meretik, S.2    Shapiro, A.3    Caine, M.4
  • 21
    • 0036830140 scopus 로고    scopus 로고
    • Tuberous sclerosis complex: renal imaging findings
    • PID: 12409579
    • Casper KA, Donnelly LF, Chen B, Bissler JJ (2002) Tuberous sclerosis complex: renal imaging findings. Radiology 225:451–456
    • (2002) Radiology , vol.225 , pp. 451-456
    • Casper, K.A.1    Donnelly, L.F.2    Chen, B.3    Bissler, J.J.4
  • 22
    • 0036234781 scopus 로고    scopus 로고
    • Reduction of postembolization syndrome after ablation of renal angiomyolipoma
    • PID: 11979340
    • Bissler JJ, Racadio J, Donnelly LF, Johnson ND (2002) Reduction of postembolization syndrome after ablation of renal angiomyolipoma. Am J Kidney Dis 39:966–971
    • (2002) Am J Kidney Dis , vol.39 , pp. 966-971
    • Bissler, J.J.1    Racadio, J.2    Donnelly, L.F.3    Johnson, N.D.4
  • 23
    • 0021740224 scopus 로고
    • Macro” aneurysm in renal angiomyolipoma: two cases, with therapeutic embolization in one patient
    • COI: 1:STN:280:DyaL2M%2Fpt1Sgtw%3D%3D, PID: 6516086
    • Adler J, Greweldinger J, Litzky G (1984) “Macro” aneurysm in renal angiomyolipoma: two cases, with therapeutic embolization in one patient. Urol Radiol 6:201–203
    • (1984) Urol Radiol , vol.6 , pp. 201-203
    • Adler, J.1    Greweldinger, J.2    Litzky, G.3
  • 24
    • 0017818885 scopus 로고
    • Symptomatic renal angiomyolipoma: report of 8 cases, 2 with spontaneous rupture
    • COI: 1:STN:280:DyaE1c7pslWjuw%3D%3D, PID: 660745
    • Mouded IM, Tolia BM, Bernie JE, Newman HR (1978) Symptomatic renal angiomyolipoma: report of 8 cases, 2 with spontaneous rupture. J Urol 119:684–688
    • (1978) J Urol , vol.119 , pp. 684-688
    • Mouded, I.M.1    Tolia, B.M.2    Bernie, J.E.3    Newman, H.R.4
  • 25
    • 0031747734 scopus 로고    scopus 로고
    • Management of renal angiomyolipoma: analysis of 15 cases
    • COI: 1:STN:280:DyaK1cvhs1ensw%3D%3D, PID: 9743700
    • Kessler OJ, Gillon G, Neuman M, Engelstein D, Winkler H, Baniel J (1998) Management of renal angiomyolipoma: analysis of 15 cases. Eur Urol 33:572–575
    • (1998) Eur Urol , vol.33 , pp. 572-575
    • Kessler, O.J.1    Gillon, G.2    Neuman, M.3    Engelstein, D.4    Winkler, H.5    Baniel, J.6
  • 26
    • 0036787423 scopus 로고    scopus 로고
    • Renal angiomyolipoma: relationships between tumor size, aneurysm formation, and rupture
    • PID: 12354988
    • Yamakado K, Tanaka N, Nakagawa T, Kobayashi S, Yanagawa M, Takeda K (2002) Renal angiomyolipoma: relationships between tumor size, aneurysm formation, and rupture. Radiology 225:78–82
    • (2002) Radiology , vol.225 , pp. 78-82
    • Yamakado, K.1    Tanaka, N.2    Nakagawa, T.3    Kobayashi, S.4    Yanagawa, M.5    Takeda, K.6
  • 27
    • 78650987740 scopus 로고    scopus 로고
    • Tuberous sclerosis complex: neurological, renal and pulmonary manifestations
    • COI: 1:CAS:528:DC%2BC3MXjsFOhs7g%3D, PID: 21210335
    • Franz DN, Bissler JJ, McCormack FX (2010) Tuberous sclerosis complex: neurological, renal and pulmonary manifestations. Neuropediatrics 41:199–208
    • (2010) Neuropediatrics , vol.41 , pp. 199-208
    • Franz, D.N.1    Bissler, J.J.2    McCormack, F.X.3
  • 28
    • 79959994425 scopus 로고    scopus 로고
    • Clinical and molecular insights into tuberous sclerosis complex renal disease
    • PID: 21152937
    • Siroky BJ, Yin H, Bissler JJ (2011) Clinical and molecular insights into tuberous sclerosis complex renal disease. Pediatr Nephrol 26:839–852
    • (2011) Pediatr Nephrol , vol.26 , pp. 839-852
    • Siroky, B.J.1    Yin, H.2    Bissler, J.J.3
  • 29
    • 0027326851 scopus 로고
    • Renal cystic disease in the tuberous sclerosis complex
    • COI: 1:STN:280:DyaK2c%2FgtFChuw%3D%3D, PID: 8398665
    • Bernstein J (1993) Renal cystic disease in the tuberous sclerosis complex. Pediatr Nephrol 7:490–495
    • (1993) Pediatr Nephrol , vol.7 , pp. 490-495
    • Bernstein, J.1
  • 30
  • 34
  • 36
    • 0031022173 scopus 로고    scopus 로고
    • Renal oncocytoma: a reappraisal of morphologic features with clinicopathologic findings in 80 cases
    • COI: 1:STN:280:DyaK2s7ksVeluw%3D%3D, PID: 8990136
    • Amin MB, Crotty TB, Tickoo SK, Farrow GM (1997) Renal oncocytoma: a reappraisal of morphologic features with clinicopathologic findings in 80 cases. Am J Surg Pathol 21:1–12
    • (1997) Am J Surg Pathol , vol.21 , pp. 1-12
    • Amin, M.B.1    Crotty, T.B.2    Tickoo, S.K.3    Farrow, G.M.4
  • 37
    • 0021708360 scopus 로고
    • Morphologic features of renal oncocytoma: a light and electron microscopic study
    • COI: 1:STN:280:DyaL2M%2FivV2qsA%3D%3D, PID: 6490001
    • Eble JN, Hull MT (1984) Morphologic features of renal oncocytoma: a light and electron microscopic study. Hum Pathol 15:1054–1061
    • (1984) Hum Pathol , vol.15 , pp. 1054-1061
    • Eble, J.N.1    Hull, M.T.2
  • 39
    • 48649095355 scopus 로고    scopus 로고
    • Clinical correlates of renal angiomyolipoma subtypes in 209 patients: classic, fat poor, tuberous sclerosis associated and epithelioid
    • PID: 18635231
    • Lane BR, Aydin H, Danforth TL, Zhou M, Remer EM, Novick AC, Campbell SC (2008) Clinical correlates of renal angiomyolipoma subtypes in 209 patients: classic, fat poor, tuberous sclerosis associated and epithelioid. J Urol 180:836–843
    • (2008) J Urol , vol.180 , pp. 836-843
    • Lane, B.R.1    Aydin, H.2    Danforth, T.L.3    Zhou, M.4    Remer, E.M.5    Novick, A.C.6    Campbell, S.C.7
  • 40
    • 22144498100 scopus 로고    scopus 로고
    • Tuberose sclerosis complex: analysis of growth rates aids differentiation of renal cell carcinoma from atypical or minimal-fat-containing angiomyolipoma
    • COI: 1:STN:280:DC%2BD2MzotFyquw%3D%3D, PID: 16038693
    • Patel U, Simpson E, Kingswood JC, Saggar-Malik AK (2005) Tuberose sclerosis complex: analysis of growth rates aids differentiation of renal cell carcinoma from atypical or minimal-fat-containing angiomyolipoma. Clin Radiol 60:665–673
    • (2005) Clin Radiol , vol.60 , pp. 665-673
    • Patel, U.1    Simpson, E.2    Kingswood, J.C.3    Saggar-Malik, A.K.4
  • 44
    • 17944398648 scopus 로고    scopus 로고
    • Epilepsy, atherosclerosis, myocardial infarction, and carbamazepine
    • PID: 12693787
    • de Chadarevian JP, Legido A, Miles DK, Katsetos CD (2003) Epilepsy, atherosclerosis, myocardial infarction, and carbamazepine. J Child Neurol 18:150–151
    • (2003) J Child Neurol , vol.18 , pp. 150-151
    • de Chadarevian, J.P.1    Legido, A.2    Miles, D.K.3    Katsetos, C.D.4
  • 45
    • 0026096189 scopus 로고
    • Causes of death in patients with tuberous sclerosis
    • COI: 1:STN:280:DyaK3MzhvVygsQ%3D%3D, PID: 1861550
    • Shepherd CW, Gomez MR, Lie JT, Crowson CS (1991) Causes of death in patients with tuberous sclerosis. Mayo Clin Proc 66:792–796
    • (1991) Mayo Clin Proc , vol.66 , pp. 792-796
    • Shepherd, C.W.1    Gomez, M.R.2    Lie, J.T.3    Crowson, C.S.4
  • 46
    • 84861702520 scopus 로고    scopus 로고
    • Guidelines for the management of tuberous sclerosis complex renal disease
    • COI: 1:STN:280:DC%2BC38not1emuw%3D%3D, PID: 22657256
    • Rouviere O, Nivet H, Grenier N, Zini L, Lechevallier E (2012) Guidelines for the management of tuberous sclerosis complex renal disease. Prog Urol 22:367–379
    • (2012) Prog Urol , vol.22 , pp. 367-379
    • Rouviere, O.1    Nivet, H.2    Grenier, N.3    Zini, L.4    Lechevallier, E.5
  • 47
    • 67049114683 scopus 로고    scopus 로고
    • Cardiovascular abnormalities in autosomal-dominant polycystic kidney disease
    • COI: 1:CAS:528:DC%2BD1MXjs1yntr4%3D, PID: 19322187
    • Ecder T, Schrier RW (2009) Cardiovascular abnormalities in autosomal-dominant polycystic kidney disease. Nat Rev Nephrol 5:221–228
    • (2009) Nat Rev Nephrol , vol.5 , pp. 221-228
    • Ecder, T.1    Schrier, R.W.2
  • 48
    • 53949102689 scopus 로고    scopus 로고
    • Increased left ventricular mass in children with autosomal dominant polycystic kidney disease and borderline hypertension
    • PID: 18716604
    • Cadnapaphornchai MA, McFann K, Strain JD, Masoumi A, Schrier RW (2008) Increased left ventricular mass in children with autosomal dominant polycystic kidney disease and borderline hypertension. Kidney Int 74:1192–1196
    • (2008) Kidney Int , vol.74 , pp. 1192-1196
    • Cadnapaphornchai, M.A.1    McFann, K.2    Strain, J.D.3    Masoumi, A.4    Schrier, R.W.5
  • 49
    • 78149316555 scopus 로고    scopus 로고
    • Improved prognosis in patients with autosomal dominant polycystic kidney disease in Denmark
    • PID: 20671227
    • Orskov B, Romming Sorensen V, Feldt-Rasmussen B, Strandgaard S (2010) Improved prognosis in patients with autosomal dominant polycystic kidney disease in Denmark. Clin J Am Soc Nephrol 5:2034–2039
    • (2010) Clin J Am Soc Nephrol , vol.5 , pp. 2034-2039
    • Orskov, B.1    Romming Sorensen, V.2    Feldt-Rasmussen, B.3    Strandgaard, S.4
  • 50
    • 77950933411 scopus 로고    scopus 로고
    • Increased incidence of angioedema with ACE inhibitors in combination with mTOR inhibitors in kidney transplant recipients
    • COI: 1:CAS:528:DC%2BC3cXmtVCnsbg%3D, PID: 20093343
    • Duerr M, Glander P, Diekmann F, Dragun D, Neumayer HH, Budde K (2010) Increased incidence of angioedema with ACE inhibitors in combination with mTOR inhibitors in kidney transplant recipients. Clin J Am Soc Nephrol 5:703–708
    • (2010) Clin J Am Soc Nephrol , vol.5 , pp. 703-708
    • Duerr, M.1    Glander, P.2    Diekmann, F.3    Dragun, D.4    Neumayer, H.H.5    Budde, K.6
  • 51
    • 37549016789 scopus 로고    scopus 로고
    • Mechanisms of epileptogenesis in tuberous sclerosis complex and related malformations of cortical development with abnormal glioneuronal proliferation
    • PID: 17727667
    • Wong M (2008) Mechanisms of epileptogenesis in tuberous sclerosis complex and related malformations of cortical development with abnormal glioneuronal proliferation. Epilepsia 49:8–21
    • (2008) Epilepsia , vol.49 , pp. 8-21
    • Wong, M.1
  • 54
    • 7044245656 scopus 로고    scopus 로고
    • Subependymal giant cell tumors in tuberous sclerosis complex
    • PID: 15505165
    • Goh S, Butler W, Thiele EA (2004) Subependymal giant cell tumors in tuberous sclerosis complex. Neurology 63:1457–1461
    • (2004) Neurology , vol.63 , pp. 1457-1461
    • Goh, S.1    Butler, W.2    Thiele, E.A.3
  • 55
    • 65449177228 scopus 로고    scopus 로고
    • Prevalence of subependymal giant cell tumors in patients with tuberous sclerosis and a review of the literature
    • COI: 1:STN:280:DC%2BD1MzlvFyrug%3D%3D, PID: 19236458
    • Adriaensen ME, Schaefer-Prokop CM, Stijnen T, Duyndam DA, Zonnenberg BA, Prokop M (2009) Prevalence of subependymal giant cell tumors in patients with tuberous sclerosis and a review of the literature. Eur J Neurol 16:691–696
    • (2009) Eur J Neurol , vol.16 , pp. 691-696
    • Adriaensen, M.E.1    Schaefer-Prokop, C.M.2    Stijnen, T.3    Duyndam, D.A.4    Zonnenberg, B.A.5    Prokop, M.6
  • 56
    • 80051666899 scopus 로고    scopus 로고
    • Subependymal giant cell astrocytoma (SEGA) treatment update
    • PID: 21465222
    • Campen CJ, Porter BE (2011) Subependymal giant cell astrocytoma (SEGA) treatment update. Curr Treat Options Neurol 13:380–385
    • (2011) Curr Treat Options Neurol , vol.13 , pp. 380-385
    • Campen, C.J.1    Porter, B.E.2
  • 57
    • 84863726665 scopus 로고    scopus 로고
    • Advances in the management of subependymal giant cell astrocytoma
    • PID: 22562196
    • Beaumont TL, Limbrick DD, Smyth MD (2012) Advances in the management of subependymal giant cell astrocytoma. Childs Nerv Syst 28:963–968
    • (2012) Childs Nerv Syst , vol.28 , pp. 963-968
    • Beaumont, T.L.1    Limbrick, D.D.2    Smyth, M.D.3
  • 58
    • 8844285191 scopus 로고    scopus 로고
    • Managing epilepsy in tuberous sclerosis complex
    • PID: 15563014
    • Thiele EA (2004) Managing epilepsy in tuberous sclerosis complex. J Child Neurol 19:680–686
    • (2004) J Child Neurol , vol.19 , pp. 680-686
    • Thiele, E.A.1
  • 60
    • 84867101893 scopus 로고    scopus 로고
    • Management of epilepsy associated with tuberous sclerosis complex (TSC): clinical recommendations
    • SEGA TSCCMf PID: 22695035
    • Curatolo P, Jozwiak S, Nabbout R, SEGA TSCCMf, Epilepsy M (2012) Management of epilepsy associated with tuberous sclerosis complex (TSC): clinical recommendations. Eur J Paediatr Neurol 16:582–586
    • (2012) Eur J Paediatr Neurol , vol.16 , pp. 582-586
    • Curatolo, P.1    Jozwiak, S.2    Nabbout, R.3    Epilepsy, M.4
  • 61
    • 34247529566 scopus 로고    scopus 로고
    • The psychopathologies of children and adolescents with tuberous sclerosis complex (TSC): a postal survey of UK families
    • PID: 17268883
    • de Vries PJ, Hunt A, Bolton PF (2007) The psychopathologies of children and adolescents with tuberous sclerosis complex (TSC): a postal survey of UK families. Eur Child Adolesc Psychiatry 16:16–24
    • (2007) Eur Child Adolesc Psychiatry , vol.16 , pp. 16-24
    • de Vries, P.J.1    Hunt, A.2    Bolton, P.F.3
  • 62
    • 33846013976 scopus 로고    scopus 로고
    • The tuberous sclerosis complex
    • PID: 17202464
    • de Vries PJ, Prather PA (2007) The tuberous sclerosis complex. N Engl J Med 356:92
    • (2007) N Engl J Med , vol.356 , pp. 92
    • de Vries, P.J.1    Prather, P.A.2
  • 63
    • 8844240684 scopus 로고    scopus 로고
    • Behavioral and cognitive aspects of tuberous sclerosis complex
    • PID: 15563012
    • Prather P, de Vries PJ (2004) Behavioral and cognitive aspects of tuberous sclerosis complex. J Child Neurol 19:666–674
    • (2004) J Child Neurol , vol.19 , pp. 666-674
    • Prather, P.1    de Vries, P.J.2
  • 65
    • 0035881089 scopus 로고    scopus 로고
    • Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis
    • COI: 1:STN:280:DC%2BD3MritVaktA%3D%3D, PID: 11520734
    • Franz DN, Brody A, Meyer C, Leonard J, Chuck G, Dabora S, Sethuraman G, Colby TV, Kwiatkowski DJ, McCormack FX (2001) Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis. Am J Respir Crit Care Med 164:661–668
    • (2001) Am J Respir Crit Care Med , vol.164 , pp. 661-668
    • Franz, D.N.1    Brody, A.2    Meyer, C.3    Leonard, J.4    Chuck, G.5    Dabora, S.6    Sethuraman, G.7    Colby, T.V.8    Kwiatkowski, D.J.9    McCormack, F.X.10
  • 66
    • 0025147135 scopus 로고
    • Incidence of tuberous sclerosis in patients with cardiac rhabdomyoma
    • COI: 1:STN:280:DyaK3M%2Fot1ylsQ%3D%3D, PID: 2260584
    • Harding CO, Pagon RA (1990) Incidence of tuberous sclerosis in patients with cardiac rhabdomyoma. Am J Med Genet 37:443–446
    • (1990) Am J Med Genet , vol.37 , pp. 443-446
    • Harding, C.O.1    Pagon, R.A.2
  • 68
    • 1642265439 scopus 로고    scopus 로고
    • Frequency and imaging appearance of hepatic angiomyolipomas in pediatric and adult patients with tuberous sclerosis
    • PID: 15039181
    • Fricke BL, Donnelly LF, Casper KA, Bissler JJ (2004) Frequency and imaging appearance of hepatic angiomyolipomas in pediatric and adult patients with tuberous sclerosis. AJR Am J Roentgenol 182:1027–1030
    • (2004) AJR Am J Roentgenol , vol.182 , pp. 1027-1030
    • Fricke, B.L.1    Donnelly, L.F.2    Casper, K.A.3    Bissler, J.J.4
  • 70
    • 78449298516 scopus 로고    scopus 로고
    • Analysis of TSC cortical tubers by deep sequencing of TSC1, TSC2 and KRAS demonstrates that small second-hit mutations in these genes are rare events
    • COI: 1:CAS:528:DC%2BC3cXhsVKqtL%2FK, PID: 20633017
    • Qin W, Chan JA, Vinters HV, Mathern GW, Franz DN, Taillon BE, Bouffard P, Kwiatkowski DJ (2010) Analysis of TSC cortical tubers by deep sequencing of TSC1, TSC2 and KRAS demonstrates that small second-hit mutations in these genes are rare events. Brain Pathol 20:1096–1105
    • (2010) Brain Pathol , vol.20 , pp. 1096-1105
    • Qin, W.1    Chan, J.A.2    Vinters, H.V.3    Mathern, G.W.4    Franz, D.N.5    Taillon, B.E.6    Bouffard, P.7    Kwiatkowski, D.J.8
  • 71
    • 84863937859 scopus 로고    scopus 로고
    • Mammalian target of rapamycin and the kidney. II. Pathophysiology and therapeutic implications
    • COI: 1:CAS:528:DC%2BC38XhtlOmt7rJ, PID: 22496407
    • Lieberthal W, Levine JS (2012) Mammalian target of rapamycin and the kidney. II. Pathophysiology and therapeutic implications. Am J Physiol Renal Physiol 303:F180–F191
    • (2012) Am J Physiol Renal Physiol , vol.303 , pp. F180-F191
    • Lieberthal, W.1    Levine, J.S.2
  • 72
    • 84863323742 scopus 로고    scopus 로고
    • Mammalian target of rapamycin and the kidney. I. The signaling pathway
    • COI: 1:CAS:528:DC%2BC38XhtlOmt7zI, PID: 22419691
    • Lieberthal W, Levine JS (2012) Mammalian target of rapamycin and the kidney. I. The signaling pathway. Am J Physiol Renal Physiol 303:F1–F10
    • (2012) Am J Physiol Renal Physiol , vol.303 , pp. F1-F10
    • Lieberthal, W.1    Levine, J.S.2
  • 73
    • 33947193386 scopus 로고    scopus 로고
    • Use of sirolimus in solid organ transplantation
    • COI: 1:CAS:528:DC%2BD2sXkvFehsb4%3D, PID: 17335296
    • Augustine JJ, Bodziak KA, Hricik DE (2007) Use of sirolimus in solid organ transplantation. Drugs 67:369–391
    • (2007) Drugs , vol.67 , pp. 369-391
    • Augustine, J.J.1    Bodziak, K.A.2    Hricik, D.E.3
  • 74
    • 84898519763 scopus 로고    scopus 로고
    • The clinical potential of temsirolimus in second or later lines of treatment for metastatic renal cell carcinoma
    • COI: 1:CAS:528:DC%2BC3sXhsVyqsbbP, PID: 24024788
    • Stenner-Liewen F, Grunwald V, Greil R, Porta C (2013) The clinical potential of temsirolimus in second or later lines of treatment for metastatic renal cell carcinoma. Expert Rev Anticancer Ther 13:1021–1033
    • (2013) Expert Rev Anticancer Ther , vol.13 , pp. 1021-1033
    • Stenner-Liewen, F.1    Grunwald, V.2    Greil, R.3    Porta, C.4
  • 75
    • 67649841563 scopus 로고    scopus 로고
    • Autosomal dominant polycystic kidney disease: the last 3 years
    • PID: 19455193
    • Torres VE, Harris PC (2009) Autosomal dominant polycystic kidney disease: the last 3 years. Kidney Int 76:149–168
    • (2009) Kidney Int , vol.76 , pp. 149-168
    • Torres, V.E.1    Harris, P.C.2
  • 76
    • 0037108682 scopus 로고    scopus 로고
    • Activated mammalian target of rapamycin pathway in the pathogenesis of tuberous sclerosis complex renal tumors
    • COI: 1:CAS:528:DC%2BD38XotFyksLs%3D, PID: 12384518
    • Kenerson HL, Aicher LD, True LD, Yeung RS (2002) Activated mammalian target of rapamycin pathway in the pathogenesis of tuberous sclerosis complex renal tumors. Cancer Res 62:5645–5650
    • (2002) Cancer Res , vol.62 , pp. 5645-5650
    • Kenerson, H.L.1    Aicher, L.D.2    True, L.D.3    Yeung, R.S.4
  • 77
    • 0032438210 scopus 로고    scopus 로고
    • Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria
    • COI: 1:STN:280:DyaK1M%2FpsFylsg%3D%3D, PID: 9881533
    • Roach ES, Gomez MR, Northrup H (1998) Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol 13:624–628
    • (1998) J Child Neurol , vol.13 , pp. 624-628
    • Roach, E.S.1    Gomez, M.R.2    Northrup, H.3
  • 78
    • 73649141998 scopus 로고    scopus 로고
    • The radiological diagnosis and treatment of renal angiomyolipoma-current status
    • COI: 1:STN:280:DC%2BC3c%2FmtVeguw%3D%3D, PID: 20103431
    • Halpenny D, Snow A, McNeill G, Torreggiani WC (2010) The radiological diagnosis and treatment of renal angiomyolipoma-current status. Clin Radiol 65:99–108
    • (2010) Clin Radiol , vol.65 , pp. 99-108
    • Halpenny, D.1    Snow, A.2    McNeill, G.3    Torreggiani, W.C.4
  • 79
    • 84872932468 scopus 로고    scopus 로고
    • Renal angiomyolipoma
    • PID: 23194120
    • Lienert AR, Nicol D (2012) Renal angiomyolipoma. BJU Int 110 [Suppl 4]:25–27
    • (2012) BJU Int , vol.110 , pp. 25-27
    • Lienert, A.R.1    Nicol, D.2
  • 81
    • 84897010067 scopus 로고    scopus 로고
    • Comparison of T2-weighted MRI with and without fat suppression for differentiating renal angiomyolipomas without visible fat from other renal tumors
    • PID: 24660704
    • Chung MS, Choi HJ, Kim MH, Cho KS (2014) Comparison of T2-weighted MRI with and without fat suppression for differentiating renal angiomyolipomas without visible fat from other renal tumors. AJR Am J Roentgenol 202:765–771
    • (2014) AJR Am J Roentgenol , vol.202 , pp. 765-771
    • Chung, M.S.1    Choi, H.J.2    Kim, M.H.3    Cho, K.S.4
  • 89
    • 84897548446 scopus 로고    scopus 로고
    • Subependymal giant cell astrocytoma: current concepts, management, and future directions
    • PID: 24549759
    • Ouyang T, Zhang N, Benjamin T, Wang L, Jiao J, Zhao Y, Chen J (2014) Subependymal giant cell astrocytoma: current concepts, management, and future directions. Childs Nerv Syst 30:561–570
    • (2014) Childs Nerv Syst , vol.30 , pp. 561-570
    • Ouyang, T.1    Zhang, N.2    Benjamin, T.3    Wang, L.4    Jiao, J.5    Zhao, Y.6    Chen, J.7
  • 90
    • 78951481544 scopus 로고    scopus 로고
    • The diagnosis and treatment of subependymal giant cell astrocytoma combined with tuberous sclerosis
    • COI: 1:CAS:528:DC%2BC3MXhs1OnsbbF, PID: 20422196
    • Jiang T, Jia G, Ma Z, Luo S, Zhang Y (2011) The diagnosis and treatment of subependymal giant cell astrocytoma combined with tuberous sclerosis. Childs Nerv Syst 27:55–62
    • (2011) Childs Nerv Syst , vol.27 , pp. 55-62
    • Jiang, T.1    Jia, G.2    Ma, Z.3    Luo, S.4    Zhang, Y.5
  • 91
    • 84859703336 scopus 로고    scopus 로고
    • Surgical resection of subependymal giant cell astrocytomas (SEGAs) and changes in SEGA-related conditions: a US national claims database study
    • PID: 22375957
    • Sun P, Krueger D, Liu J, Guo A, Rogerio J, Kohrman M (2012) Surgical resection of subependymal giant cell astrocytomas (SEGAs) and changes in SEGA-related conditions: a US national claims database study. Curr Med Res Opin 28:651–656
    • (2012) Curr Med Res Opin , vol.28 , pp. 651-656
    • Sun, P.1    Krueger, D.2    Liu, J.3    Guo, A.4    Rogerio, J.5    Kohrman, M.6
  • 93
    • 79960909795 scopus 로고    scopus 로고
    • Neurosurgical treatment of tuberous sclerosis complex lesions
    • PID: 21607641
    • Pascual-Castroviejo I (2011) Neurosurgical treatment of tuberous sclerosis complex lesions. Childs Nerv Syst 27:1211–1219
    • (2011) Childs Nerv Syst , vol.27 , pp. 1211-1219
    • Pascual-Castroviejo, I.1
  • 96
    • 84655166921 scopus 로고    scopus 로고
    • Effective everolimus treatment of inoperable, life-threatening subependymal giant cell astrocytoma and intractable epilepsy in a patient with tuberous sclerosis complex
    • PID: 22000822
    • Perek-Polnik M, Jozwiak S, Jurkiewicz E, Perek D, Kotulska K (2012) Effective everolimus treatment of inoperable, life-threatening subependymal giant cell astrocytoma and intractable epilepsy in a patient with tuberous sclerosis complex. Eur J Paediatr Neurol 16:83–85
    • (2012) Eur J Paediatr Neurol , vol.16 , pp. 83-85
    • Perek-Polnik, M.1    Jozwiak, S.2    Jurkiewicz, E.3    Perek, D.4    Kotulska, K.5
  • 97
    • 84878820005 scopus 로고    scopus 로고
    • Management of subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): clinical recommendations
    • participants of the TSC Consensus Meeting for SEGA and Epilepsy Management PID: 23391693
    • Jozwiak S, Nabbout R, Curatolo P, participants of the TSC Consensus Meeting for SEGA and Epilepsy Management (2013) Management of subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): clinical recommendations. Eur J Paediatr Neurol 17:348–352
    • (2013) Eur J Paediatr Neurol , vol.17 , pp. 348-352
    • Jozwiak, S.1    Nabbout, R.2    Curatolo, P.3
  • 99
    • 84899090072 scopus 로고    scopus 로고
    • Mammalian target of rapamycin inhibitors for intractable epilepsy and subependymal giant cell astrocytomas in tuberous sclerosis complex
    • COI: 1:CAS:528:DC%2BC2cXitlemt7o%3D, PID: 24518170
    • Cardamone M, Flanagan D, Mowat D, Kennedy SE, Chopra M, Lawson JA (2014) Mammalian target of rapamycin inhibitors for intractable epilepsy and subependymal giant cell astrocytomas in tuberous sclerosis complex. J Pediatr 164:1195–1200
    • (2014) J Pediatr , vol.164 , pp. 1195-1200
    • Cardamone, M.1    Flanagan, D.2    Mowat, D.3    Kennedy, S.E.4    Chopra, M.5    Lawson, J.A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.