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Renal involvement in tuberous sclerosis complex: a retrospective survey

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Abstract

In a retrospective survey performed in Germany and Switzerland, 207 patients (ranging in age from newborn to 70 years) were evaluated in order to establish the frequency, prognosis and diagnostic awareness of kidney involvement in the tuberous sclerosis complex. Renal manifestations were observed in 48% of patients: renal cysts (33 patients), renal angiomyolipoma (AML) (30 patients), a combination of both (8 patients), renal cell carcinoma (3 patients), life-threatening events such as haemorrhage (4 patients), hypertensive crisis (2 patients) and chronic renal failure (10 patients) were also documented. The diagnostic imaging techniques of ultrasonography, intravenous urography, computed tomography and magnetic resonance imaging (MRI) are important but do not always yield definitive information. Differentiation between AML and cysts can be achieved using special MRI techniques (RARE). The potential for renal involvement should be monitored in all patients with the tuberous sclerosis complex.

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References

  1. Sheperd CW, Beard CM, Gomez MR, Kurland LT, Whisnant JP (1991) Tuberous sclerosis complex in Olmsted County, Minnesota 1950–1989. Arch Neurol 48: 400–401

    Google Scholar 

  2. Hunt A, Lindenbaum RH (1984) Tuberous sclerosis: a new estimate of prevalence within the Oxford region, J Med Genet 21: 272–277

    Google Scholar 

  3. Sampson JR, Scahill SJ, Stephenson JB, Mann L, Connor JM (1989) Genetic aspects of tuberous sclerosis in the west of Scotland. J Med Genet 26: 28–31

    Google Scholar 

  4. Osborne JP, Fryer A, Webb D (1991) Epidemiology of tuberous sclerosis. Ann NY Acad Sci 615: 125–127

    Google Scholar 

  5. Vogt H (1908) Zur Diagnostik der Tuberösen Sklerose. Z Erforsch Behandl Jugendl Schwachsinns 2: 1–12

    Google Scholar 

  6. Fryer AE, Chalmers AH, Osborne JP (1990) The value of investigation for genetic counselling in tuberous sclerosis. J Med Genet 27: 217–223

    Google Scholar 

  7. Rott HD, Fahsold R (1991) Tuberous sclerosis in two sibs of normal parents. Clin Genet 39: 306–308

    Google Scholar 

  8. Sampson JR, Yates JR, Pirrit LA, Fleury P, Winship I, Beighton P, Connor JM (1989) Evidence for heterogeneity in tuberous sclerosis. J Med Genet 26: 511–516

    Google Scholar 

  9. Webb DW, Osborne JP (1991) Non-penetrance in tuberous sclerosis. J Med Genet 28: 417–419

    Google Scholar 

  10. Kandt RS, Pericak-Vance MA, Hung WY, Gardner RJM, Crossen PE, Nellist MD, Speer MC, Roses AD (1991) Linkage studies in tuberous sclerosis. Chromosome 9?, 11?, or maybe 14! Ann NY Acad Sci 615: 284–297

    Google Scholar 

  11. Smith M, Smalley S, Cantor R, Pandolfo M, Gomez MI, Baumann R, Floodmann P, Yoshiyama K, Nakamura Y, Julier C, Dumars K, Haines J, Trofatter J, Spence MA, Weeks D, Conneally M (1990) Mapping of a gene determining tuberous sclerosis to human chromosome 11q14–11q23. Genomics 6: 105–114

    Google Scholar 

  12. Gomez MR (1991) Phenotypes of the tuberous sclerosis complex with a revision of diagnostic criteria. Ann NY Acad Sci 615: 1–7

    Google Scholar 

  13. Borneville DM (1880) Sclérose tubéreuse des circonvolutions cérébrales: idiotie et épilepsie hemiplegique. Arch Neurol (Paris) 1: 81–91

    Google Scholar 

  14. Gomez MR (1987) Tuberous sclerosis. In: Gomez MR (ed) Neurocutaneous syndromes. Butterworths, Boston, London, Durban, Singapore, Sydney, Toronto, Wellington, pp 30–52

    Google Scholar 

  15. Bernstein J, Robbins TO (1991) Renal involvement in tuberous sclerosis. Ann NY Acad Sci 615: 36–49

    Google Scholar 

  16. Cassidy SB, Pagon RA, Pepin M, Blumenhagen JD (1983) Family studies in tuberous sclerosis. Evaluation of apparently anaffected parents. JAMA 249: 1302–1304

    Google Scholar 

  17. Stillwell TJ, Gomez MR, Kelalis PP (1987) Renal lesions in tuberous sclerosis. J Urol 138: 477–481

    Google Scholar 

  18. Narla LD, Slovis TL, Watts FB, Nigro M (1988) The renal lesions of tuberosclerosis (cysts and angiomyolipoma) — screening with sonography and computerized tomography. Pediatr Radiol 18: 205–209

    Google Scholar 

  19. Lallier TE (1991) Cell lineage and cell migration in the neural crest. Ann NY Acad Sci 615: 158–171

    Google Scholar 

  20. Davidson M, Yoshidome H, Stenroos E, Johnson EG (1991) Neuron-like cells in culture of tuberous sclerosis tissue. Ann NY Acad Sci 615: 196–210

    Google Scholar 

  21. Johnson WG, Hoshidome H, Stenroos E, Johnson WG (1991) Origin of the neuron-like cells in tuberous sclerosis tissue Ann NY Acad Sci 615: 211–219

    Google Scholar 

  22. Khalakhali-Ellis Z, Henderson K, Hemming FW (1991) Glycoprotein and proteoglycan alterations in tuberous sclerosis. Ann NY Acad Sci 615: 149–157

    Google Scholar 

  23. Crossin KL (1991) Cell adhesion molecules in embryogenesis and disease. Ann NY Acad Sci 615: 172–186

    Google Scholar 

  24. Gulcher J, Steffanson K (1991) The hexabrachion gene as a candidate for a tuberous sclerosis gene. Ann NY Acad Sci 615: 220–227

    Google Scholar 

  25. Kousseff BG (1990) The phakomatoses as paracrine growth disorders (paracrinopathies). Clin Genet 37: 97–105

    Google Scholar 

  26. Fahsold R, Rott HD, Lorenz P (1991) A third gene locus for tuberous sclerosis is closely linked to the phenylalanine hydroxylase gene locus. Hum Genet 88: 85–90

    Google Scholar 

  27. Hoffman AD (1991) Imaging of tuberous sclerosis lesions outside of the central nervous system. Ann NY Acad Sci 615: 94–123

    Google Scholar 

  28. Blute ML, Malek RS, Segura JW (1988) Angiomyolipoma: clinical metamorphosis and concepts for management. J Urol 139: 20–24

    Google Scholar 

  29. Brandt H, Fischer C, Deininger HK, Hallwachs O (1989) Gigantisches, blutendes Angiomyolipom der Niere bei Tuberöser Sklerose. Fortschr Röntgenstr 150: 606–608

    Google Scholar 

  30. Amir FA, Stephenson J, Ziervogel M (1989) Angiomyolipoma causing life-threatening hematuria in a child with tuberous sclerosis. J Pediatr Surg 24: 1308–1309

    Google Scholar 

  31. Tong YC, Chieng PU, Tsai TC, Lin SN (1990) Renal angiomyolipoma: report of 24 cases. Br J Urol 66: 585–589

    Google Scholar 

  32. Van Baal JG, Fleury P, Brummelkamp WH (1989) Tuberous sclerosis and the relation with renal angiomyolipoma. A genetic study on the clinical aspects. Clin Genet 35: 167–173

    Google Scholar 

  33. Sigmund G, Stoever B, Zimmerhackl LB, Frankenschmidt A, Nitzsche E, Leititis JU, Struwe FE, Hennig J (1991) RARE-MR-urography in the diagnosis of upper urinary tract abnormalities in children. Pediatr Radiol 21: 416–420

    Google Scholar 

  34. Taylor RS, Joseph DB, Kohaut EC, Wilson ER, Bueschen AJ (1989) Renal angiomyolipoma associated with lymph node involvement and renal cell carcinoma in patients with tuberous sclerosis J Urol 141: 930–932

    Google Scholar 

  35. Washecka R, Hanna M (1991) Malignant renal tumors in tuberous sclerosis. Urology 37: 340–343

    Google Scholar 

  36. Osterling JE, Fishman EK, Goldman SM, Marshall FF (1986) The management of renal angiomyolipoma. J Urol 135: 1121

    Google Scholar 

  37. Pirson Y (1992) Renal transplantation in tuberous sclerosis. BMJ 305: 313

    Google Scholar 

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Participating centres and principal investigators (in alphabetical order): Altötting, PD Dr. R. Schmid; Berlin, Charité, Prof. Dévaux; Bern, Dr. Penzien; Bonn, PD Dr. Zerres; Dortmund, Humangenetisches Institut; Dresden, Prof. P. Lorenz; Erlangen, Prof. H.-P. Rott; Freiburg, PD Dr. L. B. Zimmerhackl, Dr. Rehm; Hannover. Prof. J. Brodehl; Heidelberg, Prof. K. Schärer, Fr. Dr. Wingen; Jena, Prof. Misselwitz; Karlsruhe, Prof. Schindera; Leipzig, Prof. Theile, Dr. Wässer; Lübeck, Dr. Kirschstein; Lüdenscheid, Prof. Weber; Marburg, Dr. Nolte; Münster, Dr. Kurlemann, Prof. Bulla; Neuwied, Dr. Gellisen; Rostock, Doz. Dr. Stolpe; Stuttgart, Dr. Köhler, Dr. Holder.

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Zimmerhackl, L.B., Rehm, M., Kaufmehl, K. et al. Renal involvement in tuberous sclerosis complex: a retrospective survey. Pediatr Nephrol 8, 451–457 (1994). https://doi.org/10.1007/BF00856529

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  • DOI: https://doi.org/10.1007/BF00856529

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