Skip to main content
SpringerLink
Log in

Terminales Nierenversagen bei Aniridie-Wilms-Syndrom

Aniridia-wilms-syndrome in end stage renal failure

  • Originals
  • Published:
Klinische Wochenschrift Aims and scope Submit manuscript

Summary

Missing iris combined with debility and incidence of Wilms' tumor seem to be a complex syndrome which appears in 1:100,000 people. It is caused by an interstitial deletion on the short arm of chromosome no. 11.

We refer to a patient who developed end-stage renal failure caused by a focal-segmental nephrosclerosis. He underwent renal transplantation because chronic hemodialysis was impossible due to his lack of compliance. The deletion of chromosome 11 could be recognized by chromosomal analysis after transplantation. An aniridia-Wilms' tumor association (AWTA) with following focal segmental nephrosclerosis could be diagnosed.

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

Similar content being viewed by others

Abbreviations

GN:

Glomerulonephritis

HLA:

Human-Leucocyte-Antigens

CAPD:

Chronisch ambulante Peritonealdialyse

Literatur

  1. Brenner BM (1983) Hemodynamically mediated glomerular injury and the progressive nature of kidney disease. Kidney Int 23:647–651

    Google Scholar 

  2. Brusa P, Torricelli C (1953) Nefroblastoma di Wilms ed affezioni renali congenite nella casistica dell-IIPAI de Milano. Minerva Paediatr 5:457–463

    Google Scholar 

  3. Chanutin A, Ferris EB (1932) Experimental renal insufficiency produced by partial nephrectomie. I. Control diet. Arch intern Med 49:767–769

    Google Scholar 

  4. Fearon ER, Vogelstein B, Feinberg AP (1984) Somatic deletion and duplication of genes on chromosome 11 in Wilms' tumours. Nature 309:176–178

    Google Scholar 

  5. Francke U, George DL, Brown MG, Riccardi VM (1977) Gene dose effect: intraband mapping of the LDH-A locus using cells from four individuals with different interstitial deletions of 11 p. Cytogent Cell Genet 19:197–207

    Google Scholar 

  6. Gilgenkrantz S, Vigneron C, Gregoire MJ, Pernot C, Raspiller A (1982) Association of del (11) (p15.1p12), Aniridia, Catalase Deficiency, and Cardiomyopathy. Am J of Medical Genetics 13:39–49

    Google Scholar 

  7. Habib R, Loirat C, Gubler MC, Niaudet P, Bensman A, Levy M, Broyer M (1985) The nephropathy associated with male pseudohermaphroditism and Wilms' tumor (Drash syndrome): a distinctive glomerular lesion — report of 10 cases. Clin Nephrol 24/6:269–278

    Google Scholar 

  8. Hittner HM, Riccardi VM, Francke U (1979) Aniridia due to heritable chromosome 11 deletion. Ophthalmologica 86:1173–1183

    Google Scholar 

  9. Hostetter TH, Olson JL, Rennke HB, Venkatachalam MA, Brenner BM (1981) Hyperfiltration in remnant nephrons: a potentially adverse response in renal ablation. Am J Physiol 241:F85

    Google Scholar 

  10. Ingelfinger JR, Teele RL, Treves RH (1981) Renal growth after transplantation: infant kidney received by adolescent. Clin Nephrol 15:28

    Google Scholar 

  11. Kiprov DD, Colvin RB, McCluskey RT (1982) Focal and segmental glomerulosclerosis and proteinuria associated with unilateral renal agenesis. Lab Invest 46:275–279

    Google Scholar 

  12. Koskimies O (1982) Arterial hypertension developing 10 years after radiotherapie for Wilms' tumour. Brit Med J 285:996–998

    Google Scholar 

  13. Kousseff BG (1981) Aniridia-Wilms tumour association. J Pediatr 98/4:676–677

    Google Scholar 

  14. Miller RW, Fraumeni JF, Manning MD (1964) Association of Wilms tumour with aniridia, hemihypertrophy and other congenital malformations. New Engl J Med 270:922–927

    Google Scholar 

  15. Nakagome V, Ise T, Sakurai M, Nakajo T, Okamoto E, Takano T, Nakahori Y, Tsuchida Y, Nagahara Y, Takada Y, Ohsawa Y, Sawaguchi S, Toyosaka A, Kobayashi N, Matsunaga E, Saito S (1984) High-resolution studies in patients with aniridia-Wilms tumor association. Wilms tumor or related congenital abnormalities. Hum Gen 67:245–248

    Google Scholar 

  16. Riccardi VM, Sujansky E, Smith AC, Francke U (1978) Chromosomal imbalance in the aniridia-Wilms' Tumor association: 11p interstitial deletion. Pediatrics 61:604–610

    Google Scholar 

  17. Rochels R (1981) Aniridie und Wilms-tumor (Miller-Syndrom). Pädiat 193:238

    Google Scholar 

  18. Scully RE, Mark EJ, McNeely BU (1985) Weekly Clinicopathological Exercises — Cae 17-1985 Presentation of Case. New Engl J Med 312/17:1111–1119

    Google Scholar 

  19. Stahl RAK, Oberle G, Neumann HPH, Schollmeyer P (1986) Einzelniere — Risiko oder tolerabler Organiverlust? Dtsch Med Wochenschr 111/9:350–354

    Google Scholar 

  20. Turleau C, Grouchy de J, Tournade M-F, Gagnadoux M-F, Junien C (1984) Del 11 p/aniridia complex. Report of three patients and review of 37 observations from the literature. Clin Genetics 26:356–362

    Google Scholar 

  21. Yunis J, Ramsay NKC (1980) Familial occurrence of the aniridia-WIlms tumor syndrome with deletion 11p13-14.1. J Pediatr 96/6:1027–1030

    Google Scholar 

  22. Zabel B, Gutjahr P, Baumann W (1980) Interstitielle Deletion am kurzen Arm des Chromosoms Nr. 11 bei einem Kind mit Aniridie und Wilms-Tumor. In: Spranger J, Tolksdorf M (Hrsg) Klinische Genetik in der Pädiatrie. 2. Symposion Mainz. Thieme, Stuttgart New York, pp 203–206

    Google Scholar 

  23. Zucchelli P, Cagnoli L, Casanova D, Donini U, Pasquali S (1983) Focal glomerulosclerosis in patient with unilateral nephrectomy. Kidney Int 24:649–655

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Chirurgische Universitätsklinik Freiburg Abteilung für Allgemeine Chirurgie und Poliklinik, Germany

    H. Wilms & G. Kirste

  2. Humangenetisches Institut der Albert-Ludwigs-Universität Freiburg, Germany

    E. Back

Authors
  1. H. Wilms
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. E. Back
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. G. Kirste
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Wilms, H., Back, E. & Kirste, G. Terminales Nierenversagen bei Aniridie-Wilms-Syndrom. Klin Wochenschr 64, 800–803 (1986). https://doi.org/10.1007/BF01732191

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF01732191

Key words

Search

Navigation