Zusammenfassung
Die Nephronophthise (NPH) ist eine angeborene progrediente tubulointerstitielle Nierenerkrankung mit autosomal-rezessivem Erbgang, die erstmals 1951 von Fanconi et al. beschrieben wurde. Die NPH stellt mit ca. 10% der Fälle die häufigste erbliche Ursache eines chronischen terminalen Nierenversagens bei Kindern und Jugendlichen dar (Antignac et al. 1998).
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
Literatur
Antignac C, Arduy CH, Beckmann JS et al. (1993) A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p. Nat Genet 3: 342–345
Antignac C, Kleinknecht C, Habib R (1998) Nephronophthisis. In: Davison AM, Cameron JS, Grünfeld JP, Kerr DNS, Ritz E, Winearls CG (eds) Oxford textbook of clinical nephrology. Oxford University Press, Oxford, pp 2417–2426
Betz R, Rensing C, Otto E, Mincheva A, Zehnder D, Lichter P, Hildebrandt F (2000) Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis. J Pediatr 136: 828–831
Caridi G, Dagnino M, Gusmano R et al. (2000) Clinical and molecular heterogeneity of juvenile nephronophthisis in Italy: Insights from molecular screening. Am J Kidney Dis 35: 44–51
Cohen AH, Hoyer JR (1986) Nephronophthisis—a primary tubular basement membrane defect. Lab Invest 55: 564–572
Donaldson JC, Dempsey PJ, Reddy S, Bouton AH, Coffey RJ, Hanks SK (2000) Crk-associated substrate pl30(Cas) interacts with nephrocystin and both proteins localize to cellcell contacts of polarized epithelial cells. Exp Cell Res 256: 168–178
Fanconi G, Hanhart E, von Albertini A, Ühlinger E, Dolivo G, Prader A (1951) Die familiäre Nephronophthise. Helv Paediatr Acta 6: 1–49
Gubler M, Mounier F, Foldart JM (1987) Ultrastructural and immunhistochemical study of renal basement membranes in familial juvenile nephronophthisis. In: Price RG Hudson BG (eds) Renal basement membranes in health and disease. Academic, London, pp 389–398
Hildebrandt F, Strahm B, Nothwang HG et al, Members of the APN Study Group (1997 a) Molecular genetic identification of families with juvenile nephronophthisis type 1: Rate of progression to renal failure. Kidney Int 51: 261–269
Hildebrandt F, Otto E, Rensing C et al. (1997 b) A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1. Nat Genet 17: 149–153
Hildebrandt F, Otto E, Omran H (2000) Nephronophthise und verwandte Krankheiten. Med Genet 12: 225–231
Konrad M, Saunier S, Heidet L et al. (1996) Large homozygous deletions of the 2ql3 region are a major cause of juvenile nephronophthisis. Hum Mol Genet 5: 367–371
Leumann EP, Wegmann W (1983) Familial nephropathy with hyperuricemia in gout. Nephron 34: 51–57
Rahilly MA, Fleming S (1995) Abnormal integrin receptor expression in two cases of familial nephronophthisis. Histopathol 26: 345–349
Saunier S, Calado J, Heilig R et al. (1997) A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis. Hum Mol Genet 6: 2317–2323
Smith C, Graham J (1945) Congenital medullary cysts of the kidneys with severe refractory anaemia. Am J Dis Child 69: 370–378
Waldherr R, Lennert T, Weber HP, Fodisch HJ, Scharer K (1982) The nephronophthisis complex. A clinicopathologic study in children. Virchows Arch A 394: 235–254
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2002 Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Konrad, M. (2002). Nephronophthise. In: Schärer, K., Mehls, O. (eds) Pädiatrische Nephrologie. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-56378-2_14
Download citation
DOI: https://doi.org/10.1007/978-3-642-56378-2_14
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-642-62621-0
Online ISBN: 978-3-642-56378-2
eBook Packages: Springer Book Archive