Die Dense Deposit Disease ist eine glomeruläre Erkrankung der alternativen Complementaktivierung (C3-Glomerulopathie) wo sich die Complement-Ablagerungen mesangial, subendothelial, subepithelial und intramembranös befinden.
C3 Glomerulopathie | ||||
C3-Glomerulonephritis | ||||
ADAMTS13 | ||||
C1QA | ||||
C1QB | ||||
C1QC | ||||
C3 | ||||
CD46 | ||||
CFB | ||||
CFD | ||||
CFH | ||||
CFHR1 | ||||
CFHR2 | ||||
CFHR3 | ||||
CFHR4 | ||||
CFHR5 | ||||
CFI | ||||
CLU | ||||
DGKE | ||||
PIGA | ||||
THBD | ||||
Dense Deposit Disease | ||||
1. |
Brai M et al. (1988) Combined homozygous factor H and heterozygous C2 deficiency in an Italian family. |
2. |
Barbour TD et al. (2013) Dense deposit disease and C3 glomerulopathy. |
3. |
Chen Q et al. (2014) Complement factor H-related hybrid protein deregulates complement in dense deposit disease. |
4. |
Redahan L et al. (2014) Familial MPGN - a case series: a clinical description of familial membranoproliferative glomerulonephritis amongst three Irish families. |
5. |
Xiao X et al. (2014) C3 glomerulopathy: the genetic and clinical findings in dense deposit disease and C3 glomerulonephritis. |
6. |
Appel GB et al. (2005) Membranoproliferative glomerulonephritis type II (dense deposit disease): an update. |
7. |
None (2002) Complement in glomerulonephritis. |
8. |
Fijen CA et al. (1996) Heterozygous and homozygous factor H deficiency states in a Dutch family. |
9. |
Wyatt RJ et al. (1982) Partial H (beta 1H) deficiency and glomerulonephritis in two families. |
10. |
Nielsen HE et al. (1989) Hereditary, complete deficiency of complement factor H associated with recurrent meningococcal disease. |
11. |
Servais A et al. (2007) Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome. |
12. |
Licht C et al. (2006) Deletion of Lys224 in regulatory domain 4 of Factor H reveals a novel pathomechanism for dense deposit disease (MPGN II). |
15. |
Hegasy GA et al. (2002) The molecular basis for hereditary porcine membranoproliferative glomerulonephritis type II: point mutations in the factor H coding sequence block protein secretion. |
16. |
Pickering MC et al. (2002) Uncontrolled C3 activation causes membranoproliferative glomerulonephritis in mice deficient in complement factor H. |
17. |
None (2000) Factor H and the pathogenesis of renal diseases. |
18. |
Sánchez-Corral P et al. (2000) Molecular basis for factor H and FHL-1 deficiency in an Italian family. |
19. |
Ault BH et al. (1997) Human factor H deficiency. Mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism. |
20. |
Høgåsen K et al. (1995) Hereditary porcine membranoproliferative glomerulonephritis type II is caused by factor H deficiency. |
21. |
Vogt BA et al. (1995) Inherited factor H deficiency and collagen type III glomerulopathy. |
22. |
Levy M et al. (1986) H deficiency in two brothers with atypical dense intramembranous deposit disease. |
23. |
Orphanet article Orphanet ID 329931 |
24. |
OMIM.ORG article Omim 609814 |