Skip to main content
SpringerLink
Log in

Renale Angiomyolipome assoziiert mit tuberöser Hirnsklerose als seltene Ursache einer abundanten retroperitonealen Blutung

Report von 2 Fällen

  • Praxisspiegel/Kasuistik
  • Published:
Der Urologe, Ausgabe A Aims and scope Submit manuscript

Zusammenfassung

Die tuberöse Hirnsklerose (M. Bourneville-Pringle) ist eine autosomal-dominante Erkrankung, die durch Epilepsie, geistige Retardierung und die Ausbildung von Hamartomen verschiedener Organe gekennzeichnet ist. Hierbei sind insbesondere die zerebralen Riesenzellastrozytome, die kardialen Rhabdomyome und die renalen Angiomyolipome anzugeben. Bevölkerungsbezogene epidemiologische Studien zeigen eine TSC-Prävalenz von 1: 25.000. Renale Angiomyolipome, die sporadisch oder in Assoziation mit der tuberösen Hirnsklerose vorkommen, können als akute retroperitoneale Blutung oder als Flankentumor Bedeutsamkeit erlangen. Ultraschall und Computertomographie stellen aufgrund des hohen Fettanteils der Angiomyolipome den diagnostischen "golden standard" dar, in seltenen Fällen kann die Angiographie die Diagnoseverifizierung unterstützen.

Anhand zweier eigener Kasuistiken von Patienten mit retroperitonealer Massenblutung bei Morbus Bourneville-Pringle werden unter Berücksichtigung der Literatur die Behandlungsstrategien in Abhängigkeit von der Tumorgröße und dem biologischen Verhalten diskutiert.

Abstract

Tuberous sclerosis (Bourneville-Pringle-disease, TSC) is an autosomal dominant disorder characterized by seizures, mental retardation and hamartomatous tumours in multiple organs, including subependymal giant cell astrocytomas, cardiac rhabdomyomas and renal angiomyolipomas. Recent population-based studies suggest a prevalence of 1 case per 25,000 individuals. Renal angiomyolipomas, which may be found sporadically or associated with TSC, become evident as an acute retroperitoneal haemorrhage or by symptoms of a flank mass. Ultrasound and computed tomography provide clear evidence of lipomatous formation while, in rare instances, angiography can demonstrate the existence of multiple vascular tumour compartments.

In view of two cases which were admitted with the clinical picture of an acute abdomen on the basis of retroperitoneal haemorrhage, the therapeutic strategies for TSC patients with renal angiomyolipomas are discussed, paying regard to the literature in this field.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Abb. 1.
Abb. 2.
Abb. 3.
Abb. 4.
Abb. 5.
Abb. 6.
Abb. 7.
Abb. 8.
Abb. 9.
Abb. 10.
Abb. 11.

Literatur

  1. Avolio L, Savasta S, Matteotti C, Fusillo M, Bragheri R (2001) Symptomatic unilateral renal angiomyolipoma in a child with tuberous sclerosis. Urol Int 67/3: 249–251

    Google Scholar 

  2. Barbullushi M, Ldrizi A, Rroji A, Molla M, Seferi S, Dasho K, Basho J, Resuli B (2002) Tuberous sclerosis complex diagnosed firstly in an elderly patient. Clin Nephrol 57/3: 251–252

    Google Scholar 

  3. Blute ML, Malek RS, Segura JW (1988) Angiomyolipoma: clinical metamorphosis and concepts for management. J Urol 139/1: 20–24

    Google Scholar 

  4. Brandt H, Fischer C, Deininger HK, Hallwachs O (1989) Giant bleeding angiomyolipoma of the kidney in tuberous sclerosis. ROFO Fortschr Geb Rontgenstr Nuklearmed 150/5: 606–608

    Google Scholar 

  5. Byrne DJ, Stewart PA, Lowe JW (1988) Malignant angiomyolipoma of the kidney associated with hypercalcaemia. Br J Urol 62/1: 89–90

    Google Scholar 

  6. Camunez F, Lafuente J, Robledo R, Echenagusia A, Perez M, Simo G, Galvez F (1987) CT demonstration of extension of renal angiomyolipoma into the inferior vena cava in a patient with tuberous sclerosis. Urol Radiol 9/3: 152–154

    Google Scholar 

  7. Gawenda M, Erasmi H, Lorenzen J, Ernst S (1998) Renal angiomyolipoma as a rare cause of retroperitoneal hemorrhage. Chirurg 69/1: 98–101

    Google Scholar 

  8. Gottfried HW, Miller K, de Petriconi R, Wenderoth UK, Hautmann RE (1992) Kidney carcinoma in Bourneville–Pringle disease. Urologe A 31/2: 91–93

    Google Scholar 

  9. Hajdu SI, Foote FW Jr (1969) Angiomyolipoma of the kidney: report of 27 cases and review of the literature. J Urol 102/4: 396–401

    Google Scholar 

  10. Hass J, Mayer K, Rott HD (2000) Tuberous sclerosis type 1: three novel mutations detected in exon 15 by a combination of HDA and TGGE. Hum Mutat 16/1: 88

  11. Heckl W, Osterhage HR, Frohmuller HG (1987) Diagnosis and treatment of renal angiomyolipoma (based on 15 cases). Urol Int 42/3: 201–206

    Google Scholar 

  12. Jimenez RE, Eble JN, Reuter VE, Epstein JI, Folpe AL, de Peralta–Venturina M, Tamboli P, Ansell ID, Grignon DJ, Young RH, Amin MB (2001) Concurrent angiomyolipoma and renal cell neoplasia: a study of 36 cases. Mod Pathol 14/3: 157–163

    Google Scholar 

  13. Johnson PT, Nazarian LN, Feld RI, Needleman L, Lev–Toaff AS, Segal SR, Halpern EJ (2001) Sonographically guided renal mass biopsy: indications and efficacy. J Ultrasound Med 20/7: 749–753 quiz 755

    Google Scholar 

  14. Kawaguchi K, Oda Y, Nakanishi K, Saito T, Tamiya S, Nakahara K, Matsuoka H, Tsuneyoshi M (2002) Malignant transformation of renal angiomyolipoma: a case report. Am J Surg Pathol 26/4: 523–529

    Google Scholar 

  15. Kristoffersson AO, Boquist L, Truedson H (1986) Renal angiomyolipoma presenting as a rupturing abdominal aortic aneurysm. Urol Int 41/3: 216–8

    Google Scholar 

  16. Kulkarni S, Uddar M, Deshpande SG, Vaid S, Wadia RS (2000) Renal cell carcinoma as significant manifestation of tuberous sclerosis complex. J Assoc Physicians India 48/3: 351–353

    Google Scholar 

  17. Martignoni G, Bonetti F, Pea M, Tardanico R, Brunelli M, Eble JN (2002) Renal disease in adults with TSC2/PKD1 contiguous gene syndrome. Am J Surg Pathol 26/2: 198–205

    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 18/3: 205–209

    Google Scholar 

  19. Noldus J, Ancker U, Schafer H, Conrad S, Huland H (1994) Multilocular, giant angiomyolipoma of the kidney, adrenal gland and para–aortic lymph nodes. Case report of a 9–year–old boy with tuberous sclerosis. Urologe A 33/5: 453–456

    Google Scholar 

  20. Oesterling JE, Fishman EK, Goldman SM, Marshall FF (1986) The management of renal angiomyolipoma. J Urol 135/6: 1121–1124

    Google Scholar 

  21. Ortega–Deballon P, Ruiz–Rubio JL, Sirvent–Cerda S, Moreno–Azcoita M (2000) Spontaneous hemorrhage from renal angiomyolipoma. Am J Surg 180/1: 54

    Google Scholar 

  22. Pea M, Bonetti F, Martignoni G, Henske EP, Manfrin E, Colato C, Bernstein J (1998) Apparent renal cell carcinomas in tuberous sclerosis are heterogeneous: the identification of malignant epithelioid angiomyolipoma. Am J Surg Pathol 22/2: 180–187

    Google Scholar 

  23. Radin R, Ma Y (2001) Malignant epithelioid renal angiomyolipoma in a patient with tuberous sclerosis. J Comput Assist Tomogr 25/6: 873–875

    Google Scholar 

  24. Rieser R, Hauger W, Sinagowitz E (1989) Angiomyolipoma of the kidney––manifestation of Bourneville Pringle disease, computerized tomography and the renovasogram (i.e., DSA). Rontgenblatter 42/10: 428–431

  25. Takehara K, Koga S, Nishikido M, Tsurusaki T, Eguchi J, Matsuya F, Kanetake H, Hayashi T (2001) Clinical evaluation of renal angiomyolipoma. Hinyokika Kiyo 47/10: 705–708

    Google Scholar 

  26. Tong YC, Chieng PU, Tsai TC, Lin SN (1990) Renal angiomyolipoma: report of 24 cases. Br J Urol 66/6: 585–589

    Google Scholar 

  27. Waters DJ, Holt SA, Andres DF (1986) Unilateral simultaneous renal angiomyolipoma and oncocytoma. J Urol 135/3: 568–570

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Urologische Klinik, CTK Cottbus,

    M. May, M. Seehafer, C. Helke & B. Hoschke

  2. Institut für Pathologie, CTK Cottbus,

    P. Stosiek

  3. Labor für Zyto- und Molekulargenetik, GP Dresden,

    C. Ehlers

  4. Urologische Klinik des CTK Cottbus, Akademisches Lehrkrankenhaus der Charité zu Berlin, Thiemstraße 111, 03048, Cottbus,

    M. May

Authors
  1. M. May
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. M. Seehafer
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. C. Helke
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. P. Stosiek
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. C. Ehlers
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. B. Hoschke
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to M. May.

Rights and permissions

Reprints and permissions

About this article

Cite this article

May, M., Seehafer, M., Helke, C. et al. Renale Angiomyolipome assoziiert mit tuberöser Hirnsklerose als seltene Ursache einer abundanten retroperitonealen Blutung. Urologe [A] 42, 693–701 (2003). https://doi.org/10.1007/s00120-002-0288-x

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00120-002-0288-x

Schlüsselwörter

Keywords

Search

Navigation