Renal manifestations of tuberous sclerosis complex: Incidence, prognosis, and predictive factors

Kidney International

Volumn 70, Issue 10, 2006, Pages 1777-1782

  Rakowski, S K ^a   Winterkorn, E B ^a   Paul, E ^a   Steele, D J R ^a   Halpern, E F ^a   Thiele, E A ^a,b  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b Carol and James Herscot Center for Tuberous Sclerosis Complex   (United States)

Author keywords

Angiomyolipoma; Cysts; Lymphangioleiomyomatosis; Renal cell carcinoma; Tuberous sclerosis complex

Indexed keywords

ADOLESCENT; ADULT; AGE DISTRIBUTION; ANGIOMYOLIPOMA; ARTIFICIAL EMBOLISM; CHILD; CONTROLLED STUDY; CORRELATION ANALYSIS; FEMALE; GENOTYPE; HUMAN; INCIDENCE; INFANT; KIDNEY CARCINOMA; KIDNEY CYST; KIDNEY DISEASE; LYMPHANGIOMYOMA; MAJOR CLINICAL STUDY; MALE; MEDICAL RECORD; MORBIDITY; NEPHRECTOMY; ONSET AGE; PHENOTYPE; PREDICTION; PRIORITY JOURNAL; PROGNOSIS; RETROSPECTIVE STUDY; REVIEW; SEX DIFFERENCE; TUBEROUS SCLEROSIS;

EID: 33750593151     PISSN: 00852538     EISSN: 15231755     Source Type: Journal    
DOI: 10.1038/sj.ki.5001853     Document Type: Article

References (29)

1. Henske EP. Tuberous sclerosis and the kidney: from mesenchyme to epithelium, and beyond. Pediatr Nephrol 2005; 20: 854-857.
2. 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: 2208-2216.
3. Henske EP, Scheithauer BW, Short MP et al. Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions. Am J Hum Genet 1996; 59: 400-406.
4. Bjornsson J, Short MP, Kwiatkowski DJ et al. Tuberous sclerosis-associated renal cell carcinoma: clinical, pathological, and genetic features. Am J Pathol 1996; 149: 1201-1208.
5. Maruyama H, Seyama K, Sobajima J et al. Multifocal micronodular pneumocyte hyperplasia and lymphangioleiomyomatosis in tuberous sclerosis with a TSC2 gene. Mod Pathol 2001; 14: 609-614.
6. 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; 68: 64-80.
7. Sancak O, Nellist M, Goedbloed M et al. 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 2005; 13: 731-741.
8. Bissler JJ, Kingswood JC. Renal angiomyolipomata. Kidney Int 2004; 66: 924-934.
9. Jozwiak S. Renal involvement. in: Curatolo P (eds). Tuberous Sclerosis Complex: from Basic Science to Clinical Phenotypes. Mac Keith Press: London, 2003 pp. 180-195.
10. Ewalt DH, Sheffield E, Sparagana SP et al. Renal lesion growth in children with tuberous sclerosis complex. J Urol 1998; 160: 141-145.
11. Zimmerhackl LB, Rehm M, Kaufmehl K et al. Renal involvement in tuberous sclerosis complex: a retrospective survey. Pediatr Nephrol 1994; 8: 451-457.
12. Cook JA, Oliver K, Mueller RF et al. A cross sectional study of renal involvement in tuberous sclerosis. J Med Genet 1996; 33: 480-484.
13. O'Callaghan FJ, Noakes MJ, Martyn CN et al. An epidemiological study of renal pathology in tuberous sclerosis complex. BJU Int 2004; 94: 853-857.
14. Webb DW, Kabala J, Osborne JP. A population study of renal disease in patients with tuberous sclerosis. Br J Urol 1994; 74: 151-154.
15. Nelson CP, Sanda MG. Contemporary diagnosis and management of renal angiomyolipoma. J Urol 2002; 168: 1315-1325.
16. 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: 180-187.
17. Ryu JH, Moss J, Beck GJ et al. The NHLBI lymphangioleiomyomatosis registry: characteristics of 230 patients at enrollment. Am J Respir Crit Care Med 2006; 173: 105-111.
18. Laass MW, Spiegel M, Jauch A et al. Tuberous sclerosis and polycystic kidney disease in a 3-month-old infant. Pediatr Nephrol 2004; 19: 602-608.
19. Allison JW, James CA, Figarola MS. Pediatric case of the day. Renal cell carcinoma in a child with tuberous sclerosis. Radiographics 1999; 19: 1388-1389.
20. Jones AC, Shyamsundar MM, Thomas MW et al. Comprehensive mutation analysis of TSC1 and TSC2 - and phenotypic correlations in 150 families with tuberous sclerosis. Am J Hum Genet 1999; 64: 1305-1315.
21. Casper KA, Donnelly LF, Chen B et al. Tuberous sclerosis complex: renal imaging findings. Radiology 2002; 225: 451-456.
22. Lendvay TS, Broecker B, Smith EA. Renal cell carcinoma in a 2-year-old child with tuberous sclerosis. J Urol 2002; 168: 1131-1132.
23. Tello R, Blickman JG, Buonomo C et al. Meta analysis of the relationship between tuberous sclerosis complex and renal cell carcinoma. Eur J Radiol 1998; 27: 131-138.
24. Smolarek TA, Wessner LL, McCormack FX et al. Evidence that lymphangiomyomatosis is caused by TSC2 mutations: chromosome 16p13 loss of heterozygosity in angiomyolipomas and lymph nodes from women with lymphangiomyomatosis. Am J Hum Genet 1998; 62: 810-815.
25. Franz DN. Non-neurologic manifestations of tuberous sclerosis complex. J Child Neurol 2004; 19: 690-698.
26. Goncharova EA, Goncharov DA, Lim PN et al. Modulation of LAM cell migration and invasiveness by tumor suppressor TSC2. Am J Respir Cell Mol Biol 2006; 34: 473-480.
27. Astrinidis A, Henske EP. Aberrant cellular differentiation and migration in renal and pulmonary tuberous sclerosis complex. J Child Neurol 2004; 19: 710-715.
28. Carsillo T, Astrinidis A, Henske EP. Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis. Proc Natl Acad Sci USA 2000; 97: 6085-6090.
29. Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol 1998; 13: 624-628.