Skip to main content
SpringerLink
Log in

The Nephronophthisis Complex; a Clinicopathologic Study

  • Conference paper
Renal Insufficiency in Children

  • 45 Accesses

Abstract

In 1951 Fanconi and co-workers described seven children from two families suffering from progressive renal insufficiency due to a chronic tubulointerstitial nephropathy. The disorder was termed “familial juvenile nephronophthisis”. A clinically and morphologically very similar sporadic case had been reported previously by Smith and Graham (1945). At autopsy they found numerous cysts in the renal medulla which they designated as “congenital medullary cysts of the kidney”.

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

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 84.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 109.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Avasthi PS, Erickson DG, Gardner KD (1976) Hereditary renal-retinal dysplasia and the medullary cystic disease-nephronophthisis complex. Ann Intern Med 84: 157–161

    PubMed  CAS  Google Scholar 

  2. Betts PR, Forrest-Hay I (1973) Juvenile nephronophthisis. Lancet II: 475–478

    Google Scholar 

  3. Bodaghi E, Zaman T (1978) Familial nephropathy associated with bone anomaly, degenerative retinitis and congenital liver fibrosis (Abstr) 12th annual meeting of the European Society for Pediatric Nephrology, Israel 1978

    Google Scholar 

  4. Bodaghi E, Zaman T, Kheradpir MH (1980) Familial nephropathy associated with congenital liver firbrosis, degenerative retinitis and cone-shaped epiphysis. Int J Pediatr Nephrol 1: 153–156

    Google Scholar 

  5. Biochis H, Passwell J, David R, Miller H (1973) Congenital hepatic fibrosis and nephrononphthisis. Q J Med 42: 221–233

    Google Scholar 

  6. Chipail A, Haimovici M, Scumpu G, Leibovici M, Georgescu T (1973) La néphronophtise juvenile familiale. Pédiatrie 28: 321–329

    PubMed  CAS  Google Scholar 

  7. Coles GA, Branch RA (1976) Familial interstitial nephritis. Clin Nephrol 6: 513–517

    PubMed  CAS  Google Scholar 

  8. Collan Y, Sipponen P, Haapanen E, Lindahl J, Jokinen EJ, Hjelt L (1977) Hereditary nephronophthisis with a life span of three decades. Virchows Arch (Pathol Anat) 376: 195–208

    Article  CAS  Google Scholar 

  9. Delaney V, Mullaney J, Bourke E (1978) Juvenile nephronophthisis, congenital hepatic fibrosis and retinal hypoplasia in twins. Q J Med 47: 281–290

    PubMed  CAS  Google Scholar 

  10. Dieterich E, Straub E (1978) Hepatozerebelläre Variante der familiären juvenilen Nephronophtise. Therapiewoche 28: 4252–4256

    Google Scholar 

  11. Fanconi G, Hanhart E, Albertini AV, Uhlinger E, Dolivo G, Prader A (1951) Die familiäre juvenile Nephronophthise (die idiopathische parenchymatöse Schrumpfniere). Helv Paediatr Acta 6: 1–49

    PubMed  CAS  Google Scholar 

  12. Fontaine JL, Boulesteix J, Saraux H, Lasfargues G, Grenet P, Dung N, Dhermy P, Roy C, Laplane R (1970) Nephropathie tubulo-interstitielle de l’enfant avec dégénérescence tapéto-rétinienne. Arch Fr Pediatr 27: 459–470

    PubMed  CAS  Google Scholar 

  13. Freycon MT, Ravussin JJ, Gilly J, Freycon F (1977) Néphrite tubulo-interstitielle avec fibrose hépatique. Pédiatrie 32: 685–689

    PubMed  CAS  Google Scholar 

  14. Gardner KD Jr (1976) Juvenile nephronophthisis and renal medullary cystic disease. In: Gardner KD Jr (ed) Cystic diseases of the kidney. John Wiley & Sons, New York London Sydney Toronto, pp 173–185

    Google Scholar 

  15. Goldman SH, Walker SR, Merigan TC Jr, Gardner KD, Bull JMC (1966) Hereditary occurrence of cystic disease of the renal medulla. N Engl J Med 274: 984–992

    Article  PubMed  CAS  Google Scholar 

  16. Hall PW, Dammin GJ (1978) Balkan nephropathy. Nephron 22: 282–300

    Google Scholar 

  17. Kleinknecht C, Habib R (1978) Nephronophthisis. Annual meeting of the Arbeitsgemeinschaft für pädiatrische Nephrologie, Heidelberg, 13th–14th Oct, 1978

    Google Scholar 

  18. Kliger AS, Scheer RL (1976) Familial disease of the renal medulla. Ann Intern Med 85: 190–194

    PubMed  CAS  Google Scholar 

  19. Lindstedt E, Lindstedt G (1973) Tubular proteinuria early in nephronophthisis. Lancet 11: 1215–1216

    Article  Google Scholar 

  20. Løken AC, Hanssen O, Halvorsen S, Jølster NJ (1961) Hereditary renal dysplasia and blindness. Acta Peadiatr 50: 177–184

    Article  Google Scholar 

  21. Proesmans W, van Damme B, Macken J (1975) Nephronophthisis and tapetoretinal deneration associated with liver fibrosis. Clin Nephrol 3: 160–164

    PubMed  CAS  Google Scholar 

  22. Robins DG, French TA, Chakera TMH (1976) Juvenile nephronophthisis associated with skeletal abnormalities and hepatic fibrosis. Arch Dis Child 51: 799–801

    Article  PubMed  CAS  Google Scholar 

  23. Senior B, Friedman AI, Braudo JL (1961) Juvenile familial nephropathy with tapetoretinal degeneration. Am J Ophtalmol 52: 625–633

    CAS  Google Scholar 

  24. Smith CH, Graham JB (1945) Congenital medullary cysts of the kidneys with severe refractory anemia. Am J Dis Child 69: 369–377

    Google Scholar 

  25. Sworn MU, Eisinger AJ (1972) Medullary cystic disease and juvenile nephronophthisis in separate members of the same family. Arch Dis Child 47: 278–281

    Article  PubMed  CAS  Google Scholar 

  26. Waldherr R, Schärer K, Weber HP (1979) Juvenile Nephronophthise. Verh Dtsch Ges Pathol 63: 502

    Google Scholar 

  27. Weber HP, Becker M, Rotthauwe HW, Födisch HJ, Waldherr R (1979) Familäre Nephronophthise mit periportaler Leberfibrose. Nieren Hochdruckkr 8: 89

    Google Scholar 

Download references

Authors
  1. R. Waldherr
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. T. Lennert
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. H.-P. Weber
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. H. J. Födisch
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. D. Michalk
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. D. E. Müller-Wiefel
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. K. Schärer
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Kinderdialyse, Universitäts-Kinderklinik Köln, Joseph-Stelzmann-Str. 9, Köln 41, 5000, Germany

    Monika Bulla Frau Priv.-Doz. (Scientific Chairman and Editor) (Scientific Chairman and Editor)

Rights and permissions

Reprints and permissions

Copyright information

© 1982 Springer-Verlag Berlin Heidelberg

About this paper

Cite this paper

Waldherr, R. et al. (1982). The Nephronophthisis Complex; a Clinicopathologic Study. In: Bulla, M. (eds) Renal Insufficiency in Children. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-68144-8_2

Download citation

  • DOI: https://doi.org/10.1007/978-3-642-68144-8_2

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-68146-2

  • Online ISBN: 978-3-642-68144-8

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics

Search

Navigation