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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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Authors and Affiliations

  1. Department of Paediatrics, Albert-Ludwigs-University, Mathildenstrasse 1, D-79106, Freiburg, Germany

    L. B. Zimmerhackl, M. Rehm, K. Kaufmehl & M. Brandis

  2. Department of Paediatrics, Wilhelms-University, D-48129, Münster, Germany

    G. Kurlemann

Authors
  1. L. B. Zimmerhackl
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  2. M. Rehm
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  3. K. Kaufmehl
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  4. G. Kurlemann
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  5. M. Brandis
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Additional information

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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