Official reprint from UpToDate®
www.uptodate.com ©2016 UpToDate®

Renal manifestations of tuberous sclerosis complex

Vicente E Torres, MD
William M Bennett, MD
Section Editor
Ronald D Perrone, MD
Deputy Editor
Alice M Sheridan, MD


Tuberous sclerosis complex (TSC) is a genetic disease with autosomal dominant inheritance. It is caused by mutations in either the TSC1 gene on chromosome 9 or the TSC2 gene on chromosome 16. The gene product of TSC1 is hamartin, and the gene product of TSC2 is tuberin. (See "Tuberous sclerosis complex: Genetics, clinical features, and diagnosis", section on 'Genetics'.)

TSC2 mutations generally produce a more severe phenotype than TSC1 mutations [1]. This includes a higher frequency and severity of renal angiolipomas and renal cysts and a higher risk for the development of renal cell carcinoma (RCC). (See 'Epidemiology' below and "Tuberous sclerosis complex: Genetics, clinical features, and diagnosis", section on 'Genotype-phenotype correlations'.)

The estimated prevalence of TSC ranges from 1 in 10,000 to 1 in 30,000 individuals in different studies [2-4]. However, it has been estimated that more than one-half of patients with TSC mutations are not detected [2] and that the birth incidence is higher, ranging from 1 in 5000 to 1 in 10,000 individuals [4].

This topic will review the renal manifestations of TSC, which include angiomyolipomas (AMLs), renal cysts, RCC, and other, less common manifestations. Sporadic renal AMLs and renal AMLs associated with sporadic pulmonary lymphangiomyomatosis are discussed elsewhere (see "Renal angiomyolipomas"). The clinical features, diagnosis, and management of TSC are also discussed in detail elsewhere. (See "Tuberous sclerosis complex: Genetics, clinical features, and diagnosis" and "Pulmonary involvement in tuberous sclerosis complex" and "Tuberous sclerosis complex: Management".)


The most common renal lesions associated with tuberous sclerosis complex (TSC) are angiomyolipomas (AMLs), cysts, and renal cell carcinoma (RCC). Less common renal manifestations include oncocytoma, interstitial disease, focal segmental glomerulosclerosis (FSGS), and other renal lesions (table 1).


Subscribers log in here

To continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information or to purchase a personal subscription, click below on the option that best describes you:
Literature review current through: Sep 2016. | This topic last updated: Mar 16, 2016.
The content on the UpToDate website is not intended nor recommended as a substitute for medical advice, diagnosis, or treatment. Always seek the advice of your own physician or other qualified health care professional regarding any medical questions or conditions. The use of this website is governed by the UpToDate Terms of Use ©2016 UpToDate, Inc.
  1. Dabora SL, Jozwiak S, Franz DN, et al. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet 2001; 68:64.
  2. Hallett L, Foster T, Liu Z, et al. Burden of disease and unmet needs in tuberous sclerosis complex with neurological manifestations: systematic review. Curr Med Res Opin 2011; 27:1571.
  3. Levy M, Feingold J. Estimating prevalence in single-gene kidney diseases progressing to renal failure. Kidney Int 2000; 58:925.
  4. Osborne JP, Fryer A, Webb D. Epidemiology of tuberous sclerosis. Ann N Y Acad Sci 1991; 615:125.
  5. Rakowski SK, Winterkorn EB, Paul E, et al. Renal manifestations of tuberous sclerosis complex: Incidence, prognosis, and predictive factors. Kidney Int 2006; 70:1777.
  6. Ewalt DH, Sheffield E, Sparagana SP, et al. Renal lesion growth in children with tuberous sclerosis complex. J Urol 1998; 160:141.
  7. Casper KA, Donnelly LF, Chen B, Bissler JJ. Tuberous sclerosis complex: renal imaging findings. Radiology 2002; 225:451.
  8. Stillwell TJ, Gomez MR, Kelalis PP. Renal lesions in tuberous sclerosis. J Urol 1987; 138:477.
  9. O'Callaghan FJ, Noakes MJ, Martyn CN, Osborne JP. An epidemiological study of renal pathology in tuberous sclerosis complex. BJU Int 2004; 94:853.
  10. Hornick JL, Pan C-C. PEComa. In: World Health Organization classification of tumours of soft tissue and bone, 4th, Fletcher CDM, Brodge JA, Hogendoorn PCW, Mertens F. (Eds), IARC, Lyon 2013. p.230.
  11. Martignoni G, Pea M, Reghellin D, et al. PEComas: the past, the present and the future. Virchows Arch 2008; 452:119.
  12. Bissler JJ, Kingswood JC. Renal angiomyolipomata. Kidney Int 2004; 66:924.
  13. Nelson CP, Sanda MG. Contemporary diagnosis and management of renal angiomyolipoma. J Urol 2002; 168:1315.
  14. Bernstein J, Robbins TO. Renal involvement in tuberous sclerosis. Ann N Y Acad Sci 1991; 615:36.
  15. Torres VE, King BF, Holley KE, et al. The kidney in the tuberous sclerosis complex. Adv Nephrol Necker Hosp 1994; 23:43.
  16. Torres VE, King BF, McKusick MA, et al. Update on tuberous sclerosis complex. Contrib Nephrol 2001; :33.
  17. Patel U, Simpson E, Kingswood JC, Saggar-Malik AK. Tuberose sclerosis complex: analysis of growth rates aids differentiation of renal cell carcinoma from atypical or minimal-fat-containing angiomyolipoma. Clin Radiol 2005; 60:665.
  18. Seyam RM, Bissada NK, Kattan SA, et al. Changing trends in presentation, diagnosis and management of renal angiomyolipoma: comparison of sporadic and tuberous sclerosis complex-associated forms. Urology 2008; 72:1077.
  19. Klein KO, Baron J, Colli MJ, et al. Estrogen levels in childhood determined by an ultrasensitive recombinant cell bioassay. J Clin Invest 1994; 94:2475.
  20. Eijkemans MJ, van der Wal W, Reijnders LJ, et al. Long-term Follow-up Assessing Renal Angiomyolipoma Treatment Patterns, Morbidity, and Mortality: An Observational Study in Tuberous Sclerosis Complex Patients in the Netherlands. Am J Kidney Dis 2015; 66:638.
  21. Dixon BP, Hulbert JC, Bissler JJ. Tuberous sclerosis complex renal disease. Nephron Exp Nephrol 2011; 118:e15.
  22. Oesterling JE, Fishman EK, Goldman SM, Marshall FF. The management of renal angiomyolipoma. J Urol 1986; 135:1121.
  23. Albi G, del Campo L, Tagarro D. Wünderlich's syndrome: causes, diagnosis and radiological management. Clin Radiol 2002; 57:840.
  24. Rimon U, Duvdevani M, Garniek A, et al. Large renal angiomyolipomas: digital subtraction angiographic grading and presentation with bleeding. Clin Radiol 2006; 61:520.
  25. Yamakado K, Tanaka N, Nakagawa T, et al. Renal angiomyolipoma: relationships between tumor size, aneurysm formation, and rupture. Radiology 2002; 225:78.
  26. Lewis EL, Palmer JM. Renal angiomyolipoma and massive retroperitoneal hemorrhage during pregnancy. West J Med 1985; 143:675.
  27. Petrikovsky BM, Vintzileos AM, Cassidy SB, Egan JF. Tuberous sclerosis in pregnancy. Am J Perinatol 1990; 7:133.
  28. Raft J, Lalot JM, Meistelman C, Longrois D. [Renal angiomyolipoma rupture during pregnancy]. Gynecol Obstet Fertil 2006; 34:917.
  29. Zapardiel I, Delafuente-Valero J, Bajo-Arenas JM. Renal angiomyolipoma during pregnancy: review of the literature. Gynecol Obstet Invest 2011; 72:217.
  30. Martignoni G, Pea M, Rocca PC, Bonetti F. Renal pathology in the tuberous sclerosis complex. Pathology 2003; 35:505.
  31. Lane BR, Aydin H, Danforth TL, et al. Clinical correlates of renal angiomyolipoma subtypes in 209 patients: classic, fat poor, tuberous sclerosis associated and epithelioid. J Urol 2008; 180:836.
  32. Bloom DA, Scardino PT, Ehrlich RM, Waisman J. The significance of lymph nodal involvement in renal angiomyolipoma. J Urol 1982; 128:1292.
  33. Hulbert JC, Graf R. Involvement of the spleen by renal angiomyolipoma: metastasis or multicentricity? J Urol 1983; 130:328.
  34. Amin MB. Epithelioid angiomyolipoma. In: World Health Organization Classification of Tumours Pathology and Genetics of Tumors of the Urinary System and Male Genital Organs, Eble J, Sauter G, Epstein J (Eds), IARC Press, Lyon 2004. p.68.
  35. Nese N, Martignoni G, Fletcher CD, et al. Pure epithelioid PEComas (so-called epithelioid angiomyolipoma) of the kidney: A clinicopathologic study of 41 cases: detailed assessment of morphology and risk stratification. Am J Surg Pathol 2011; 35:161.
  36. Aydin H, Magi-Galluzzi C, Lane BR, et al. Renal angiomyolipoma: clinicopathologic study of 194 cases with emphasis on the epithelioid histology and tuberous sclerosis association. Am J Surg Pathol 2009; 33:289.
  37. Brimo F, Robinson B, Guo C, et al. Renal epithelioid angiomyolipoma with atypia: a series of 40 cases with emphasis on clinicopathologic prognostic indicators of malignancy. Am J Surg Pathol 2010; 34:715.
  38. Nagashima Y, Ohaki Y, Tanaka Y, et al. A case of renal angiomyolipomas associated with multiple and various hamartomatous microlesions. Virchows Arch A Pathol Anat Histopathol 1988; 413:177.
  39. Kiliçaslan I, Güllüoglu MG, Dogan O, Uysal V. Intraglomerular microlesions in renal angiomyolipoma. Hum Pathol 2000; 31:1325.
  40. Bosniak MA, Megibow AJ, Hulnick DH, et al. CT diagnosis of renal angiomyolipoma: the importance of detecting small amounts of fat. AJR Am J Roentgenol 1988; 151:497.
  41. Siegel CL, Middleton WD, Teefey SA, McClennan BL. Angiomyolipoma and renal cell carcinoma: US differentiation. Radiology 1996; 198:789.
  42. Halpenny D, Snow A, McNeill G, Torreggiani WC. The radiological diagnosis and treatment of renal angiomyolipoma-current status. Clin Radiol 2010; 65:99.
  43. Hindman N, Ngo L, Genega EM, et al. Angiomyolipoma with minimal fat: can it be differentiated from clear cell renal cell carcinoma by using standard MR techniques? Radiology 2012; 265:468.
  44. Silverman SG, Gan YU, Mortele KJ, et al. Renal masses in the adult patient: the role of percutaneous biopsy. Radiology 2006; 240:6.
  45. Davenport MS, Neville AM, Ellis JH, et al. Diagnosis of renal angiomyolipoma with hounsfield unit thresholds: effect of size of region of interest and nephrographic phase imaging. Radiology 2011; 260:158.
  46. Tanaka H, Yoshida S, Fujii Y, et al. Diffusion-weighted magnetic resonance imaging in the differentiation of angiomyolipoma with minimal fat from clear cell renal cell carcinoma. Int J Urol 2011; 18:727.
  47. Chaudhry HS, Davenport MS, Nieman CM, et al. Histogram analysis of small solid renal masses: differentiating minimal fat angiomyolipoma from renal cell carcinoma. AJR Am J Roentgenol 2012; 198:377.
  48. Sasiwimonphan K, Takahashi N, Leibovich BC, et al. Small (<4 cm) renal mass: differentiation of angiomyolipoma without visible fat from renal cell carcinoma utilizing MR imaging. Radiology 2012; 263:160.
  49. Ho CL, Chen S, Ho KM, et al. Dual-tracer PET/CT in renal angiomyolipoma and subtypes of renal cell carcinoma. Clin Nucl Med 2012; 37:1075.
  50. Bonzanini M, Pea M, Martignoni G, et al. Preoperative diagnosis of renal angiomyolipoma: fine needle aspiration cytology and immunocytochemical characterization. Pathology 1994; 26:170.
  51. Pea M, Bonetti F, Martignoni G, et al. Apparent renal cell carcinomas in tuberous sclerosis are heterogeneous: the identification of malignant epithelioid angiomyolipoma. Am J Surg Pathol 1998; 22:180.
  52. Schreiner A, Daneshmand S, Bayne A, et al. Distinctive morphology of renal cell carcinomas in tuberous sclerosis. Int J Surg Pathol 2010; 18:409.
  53. Argani P, Yonescu R, Morsberger L, et al. Molecular confirmation of t(6;11)(p21;q12) renal cell carcinoma in archival paraffin-embedded material using a break-apart TFEB FISH assay expands its clinicopathologic spectrum. Am J Surg Pathol 2012; 36:1516.
  54. Pecciarini L, Cangi MG, Lo Cunsolo C, et al. Characterization of t(6;11)(p21;q12) in a renal-cell carcinoma of an adult patient. Genes Chromosomes Cancer 2007; 46:419.
  55. Rao Q, Liu B, Cheng L, et al. Renal cell carcinomas with t(6;11)(p21;q12): A clinicopathologic study emphasizing unusual morphology, novel alpha-TFEB gene fusion point, immunobiomarkers, and ultrastructural features, as well as detection of the gene fusion by fluorescence in situ hybridization. Am J Surg Pathol 2012; 36:1327.
  56. Krueger DA, Northrup H, International Tuberous Sclerosis Complex Consensus Group. Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol 2013; 49:255.
  57. Roach ES, DiMario FJ, Kandt RS, Northrup H. Tuberous Sclerosis Consensus Conference: recommendations for diagnostic evaluation. National Tuberous Sclerosis Association. J Child Neurol 1999; 14:401.
  58. Gould Rothberg BE, Grooms MC, Dharnidharka VR. Rapid growth of a kidney angiomyolipoma after initiation of oral contraceptive therapy. Obstet Gynecol 2006; 108:734.
  59. Sooriakumaran P, Gibbs P, Coughlin G, et al. Angiomyolipomata: challenges, solutions, and future prospects based on over 100 cases treated. BJU Int 2010; 105:101.
  60. Dickinson M, Ruckle H, Beaghler M, Hadley HR. Renal angiomyolipoma: optimal treatment based on size and symptoms. Clin Nephrol 1998; 49:281.
  61. Harabayashi T, Shinohara N, Katano H, et al. Management of renal angiomyolipomas associated with tuberous sclerosis complex. J Urol 2004; 171:102.
  62. Heidenreich A, Hegele A, Varga Z, et al. Nephron-sparing surgery for renal angiomyolipoma. Eur Urol 2002; 41:267.
  63. Staehler M, Sauter M, Helck A, et al. Nephron-sparing resection of angiomyolipoma after sirolimus pretreatment in patients with tuberous sclerosis. Int Urol Nephrol 2012; 44:1657.
  64. Ewalt DH, Diamond N, Rees C, et al. Long-term outcome of transcatheter embolization of renal angiomyolipomas due to tuberous sclerosis complex. J Urol 2005; 174:1764.
  65. Williams JM, Racadio JM, Johnson ND, et al. Embolization of renal angiomyolipomata in patients with tuberous sclerosis complex. Am J Kidney Dis 2006; 47:95.
  66. Lenton J, Kessel D, Watkinson AF. Embolization of renal angiomyolipoma: immediate complications and long-term outcomes. Clin Radiol 2008; 63:864.
  67. Lee SY, Hsu HH, Chen YC, et al. Embolization of renal angiomyolipomas: short-term and long-term outcomes, complications, and tumor shrinkage. Cardiovasc Intervent Radiol 2009; 32:1171.
  68. Villalta JD, Sorensen MD, Durack JC, et al. Selective arterial embolization of angiomyolipomas: a comparison of smaller and larger embolic agents. J Urol 2011; 186:921.
  69. Planché O, Correas JM, Mader B, et al. Prophylactic embolization of renal angiomyolipomas: evaluation of therapeutic response using CT 3D volume calculation and density histograms. J Vasc Interv Radiol 2011; 22:1388.
  70. El-Hashemite N, Zhang H, Henske EP, Kwiatkowski DJ. Mutation in TSC2 and activation of mammalian target of rapamycin signalling pathway in renal angiomyolipoma. Lancet 2003; 361:1348.
  71. Bissler JJ, McCormack FX, Young LR, et al. Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis. N Engl J Med 2008; 358:140.
  72. Dabora SL, Franz DN, Ashwal S, et al. Multicenter phase 2 trial of sirolimus for tuberous sclerosis: kidney angiomyolipomas and other tumors regress and VEGF- D levels decrease. PLoS One 2011; 6:e23379.
  73. Davies DM, de Vries PJ, Johnson SR, et al. Sirolimus therapy for angiomyolipoma in tuberous sclerosis and sporadic lymphangioleiomyomatosis: a phase 2 trial. Clin Cancer Res 2011; 17:4071.
  74. Cabrera-López C, Martí T, Catalá V, et al. Assessing the effectiveness of rapamycin on angiomyolipoma in tuberous sclerosis: a two years trial. Orphanet J Rare Dis 2012; 7:87.
  75. 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; 381:817.
  76. Pirson Y. Tuberous sclerosis complex-associated kidney angiomyolipoma: from contemplation to action. Nephrol Dial Transplant 2013; 28:1680.
  77. Atwell TD, Schmit GD, Boorjian SA, et al. Percutaneous ablation of renal masses measuring 3.0 cm and smaller: comparative local control and complications after radiofrequency ablation and cryoablation. AJR Am J Roentgenol 2013; 200:461.
  78. Castle SM, Gorbatiy V, Ekwenna O, et al. Radiofrequency ablation (RFA) therapy for renal angiomyolipoma (AML): an alternative to angio-embolization and nephron-sparing surgery. BJU Int 2012; 109:384.
  79. Prevoo W, van den Munckhof MP, Meinhardt W, et al. Radiofrequency ablation of kidney tumours in patients with a solitary kidney. Clin Radiol 2010; 65:230.
  80. Sampson JR, Maheshwar MM, Aspinwall R, et al. Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene. Am J Hum Genet 1997; 61:843.
  81. Brook-Carter PT, Peral B, Ward CJ, et al. Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome. Nat Genet 1994; 8:328.
  82. Consugar MB, Wong WC, Lundquist PA, et al. Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome. Kidney Int 2008; 74:1468.
  83. Murakami A, Gomi K, Tanaka M, et al. Unilateral glomerulocystic kidney disease associated with tuberous sclerosis complex in a neonate. Pathol Int 2012; 62:209.
  84. Bernstein J. Glomerulocystic kidney disease--nosological considerations. Pediatr Nephrol 1993; 7:464.
  85. Jimenez RE, Eble JN, Reuter VE, et al. Concurrent angiomyolipoma and renal cell neoplasia: a study of 36 cases. Mod Pathol 2001; 14:157.
  86. Henske EP. The genetic basis of kidney cancer: why is tuberous sclerosis complex often overlooked? Curr Mol Med 2004; 4:825.
  87. Bjornsson J, Short MP, Kwiatkowski DJ, Henske EP. Tuberous sclerosis-associated renal cell carcinoma. Clinical, pathological, and genetic features. Am J Pathol 1996; 149:1201.
  88. Yang P, Cornejo KM, Sadow PM, et al. Renal cell carcinoma in tuberous sclerosis complex. Am J Surg Pathol 2014; 38:895.
  89. Al-Saleem T, Wessner LL, Scheithauer BW, et al. Malignant tumors of the kidney, brain, and soft tissues in children and young adults with the tuberous sclerosis complex. Cancer 1998; 83:2208.
  90. Breysem L, Nijs E, Proesmans W, Smet MH. Tuberous sclerosis with cystic renal disease and multifocal renal cell carcinoma in a baby girl. Pediatr Radiol 2002; 32:677.
  91. Lendvay TS, Broecker B, Smith EA. Renal cell carcinoma in a 2-year-old child with tuberous sclerosis. J Urol 2002; 168:1131.
  92. Selle B, Furtwängler R, Graf N, et al. Population-based study of renal cell carcinoma in children in Germany, 1980-2005: more frequently localized tumors and underlying disorders compared with adult counterparts. Cancer 2006; 107:2906.
  93. Kubo M, Iwashita K, Oyachi N, et al. Two different types of infantile renal cell carcinomas associated with tuberous sclerosis. J Pediatr Surg 2011; 46:E37.
  94. Paul E, Thiele EA, Shailam R, et al. Case records of the Massachusetts General Hospital. Case 26-2011. A 7-year-old boy with a complex cyst in the kidney. N Engl J Med 2011; 365:743.
  95. Shapiro RA, Skinner DG, Stanley P, Edelbrock HH. Renal tumors associated with tuberous sclerosis: the case for aggressive surgical management. J Urol 1984; 132:1170.
  96. Elsamaloty H, Abdullah A, Elzawawi M. Multiple bilateral renal oncocytoms in a known case of tuberous sclerosis: a case report. Abdom Imaging 2010; 35:115.
  97. Torres VE, Björnsson J, King BF, et al. Extrapulmonary lymphangioleiomyomatosis and lymphangiomatous cysts in tuberous sclerosis complex. Mayo Clin Proc 1995; 70:641.
  98. Matsui K, Tatsuguchi A, Valencia J, et al. Extrapulmonary lymphangioleiomyomatosis (LAM): clinicopathologic features in 22 cases. Hum Pathol 2000; 31:1242.
  99. Rolfes DB, Towbin R, Bove KE. Vascular dysplasia in a child with tuberous sclerosis. Pediatr Pathol 1985; 3:359.
  100. Flynn PM, Robinson MB, Stapleton FB, et al. Coarctation of the aorta and renal artery stenosis in tuberous sclerosis. Pediatr Radiol 1984; 14:337.
  101. Patzer L, Basche S, Misselwitz J. Renal artery stenosis and aneurysmatic dilatation of arteria carotis interna in tuberous sclerosis complex. Pediatr Nephrol 2002; 17:193.
  102. Wong H, Hadi M, Khoury T, et al. Management of severe hypertension in a child with tuberous sclerosis-related major vascular abnormalities. J Hypertens 2006; 24:597.
  103. Salerno AE, Marsenic O, Meyers KE, et al. Vascular involvement in tuberous sclerosis. Pediatr Nephrol 2010; 25:1555.
  104. Kyo M, Kohda N, Fujimoto N, Nagano S. [A case of angiomyolipoma originating from polycystic kidney with horseshoe kidney]. Hinyokika Kiyo 1987; 33:1416.
  105. Ortiz Cabría R, Blanco Parra M, Rodríguez de la Rua Román J. [Tuberous sclerosis. Multiple kidney pathology. Presentation of a case]. Actas Urol Esp 1990; 14:310.
  106. Niemi AK, Northrup H, Hudgins L, Bernstein JA. Horseshoe kidney and a rare TSC2 variant in two unrelated individuals with tuberous sclerosis complex. Am J Med Genet A 2011; 155A:2534.
  107. Schillinger F, Montagnac R. [Renal lesions in tuberous sclerosis]. Nephrol Ther 2006; 2 Suppl 2:S123.
  108. Rosenberg JC, Bernstein J, Rosenberg B. Renal cystic disease associated with tuberous sclerosis complex: renal failure treated by cadaveric kidney transplantation. Clin Nephrol 1975; 4:109.
  109. Meyrier A, Rainfray M, Roland J, Merlier J. [Tuberous sclerosis with chronic renal failure treated by hemodialysis and transplantation (author's transl)]. Nephrologie 1980; 1:85.
  110. Clarke A, Hancock E, Kingswood C, Osborne JP. End-stage renal failure in adults with the tuberous sclerosis complex. Nephrol Dial Transplant 1999; 14:988.
  111. Liang S, Cuevas G, Tizani S, et al. Novel mechanism of regulation of fibrosis in kidney tumor with tuberous sclerosis. Mol Cancer 2013; 12:49.
  112. Schillinger F, Montagnac R. [Renal transplantation in Bourneville tuberous sclerosis]. Nephrologie 1994; 15:339.
  113. Sarraf M, Masoumi A, Castro-Silva FJ, et al. A case of tuberous sclerosis complex that progressed to end-stage renal disease. Nat Clin Pract Nephrol 2009; 5:172.
  114. Tarasewicz A, Debska-Slizień A, Konopa J, et al. Rapamycin as a therapy of choice after renal transplantation in a patient with tuberous sclerosis complex. Transplant Proc 2009; 41:3677.
  115. Haidinger M, Werzowa J, Weichhart T, Säemann MD. Targeting the dysregulated mammalian target of rapamycin pathway in organ transplantation: killing 2 birds with 1 stone. Transplant Rev (Orlando) 2011; 25:145.
  116. Shepherd CW, Gomez MR, Lie JT, Crowson CS. Causes of death in patients with tuberous sclerosis. Mayo Clin Proc 1991; 66:792.