Heterogeneous pattern of renal disease associated with homozygous Factor H deficiency

Human Pathology

Volumn 42, Issue 9, 2011, Pages 1305-1311

  Servais, Aude ^a,b   Noël, Laure Hélène ^a   Dragon Durey, Marie Agnes ^c   Gübler, Marie Claire ^a   Rémy, Philippe ^d   Buob, David ^e   Cordonnier, Carole ^d   Makdassi, Raïfah ^f   Jaber, Waddah ^g   Boulanger, Eric ^e   Lesavre, Philippe ^a,b   Frémeaux Bacchi, Véronique ^c  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

^d HENRI MONDOR HOSPITAL   (France)

^e LILLE UNIVERSITY HOSPITAL   (France)

^f AMIENS UNIVERSITY HOSPITAL   (France)

^g NONE   (France)

Author keywords

Alternative pathway; C3 Nephritic factor; Complement; Complement gene mutation; Factor H deficiency; Primary glomerulonephritis

Indexed keywords

COMPLEMENT COMPONENT C1Q; COMPLEMENT COMPONENT C3; COMPLEMENT FACTOR H; IMMUNOGLOBULIN G;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; COMPLEMENT ALTERNATIVE PATHWAY; COMPLEMENT DEFICIENCY; COMPLEMENT FACTOR H DEFICIENCY; FEMALE; GLOMERULUS FILTRATION RATE; HEMATURIA; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; INFANT; MALE; MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS; ONSET AGE; PROTEINURIA; SYMPTOM;

ADOLESCENT; ADULT; CHILD, PRESCHOOL; COMPLEMENT C3 NEPHRITIC FACTOR; COMPLEMENT FACTOR H; COMPLEMENT PATHWAY, ALTERNATIVE; FEMALE; GLOMERULONEPHRITIS, MEMBRANOPROLIFERATIVE; HUMANS; INFANT; MALE;

EID: 79958793824     PISSN: 00468177     EISSN: 15328392     Source Type: Journal    
DOI: 10.1016/j.humpath.2010.11.023     Document Type: Article

References (21)

1. Appel G.B., Cook H.T., and Hageman G. Membranoproliferative glomerulonephritis type II (dense deposit disease): an update J Am Soc Nephrol 16 2005 1392 1403 (Pubitemid 41716523)
2. Licht C., Heinen S., and Jozsi M. Deletion of Lys224 in regulatory domain 4 of Factor H reveals a novel pathomechanism for dense deposit disease (MPGN II) Kidney Int 70 2006 42 50 (Pubitemid 44000119)
3. Licht C., Schlotzer-Schrehardt U., Kirschfink M., Zipfel P.F., and Hoppe B. MPGN II-genetically determined by defective complement regulation? Pediatr Nephrol 22 2007 2 9 (Pubitemid 46138352)
4. Levy M., Halbwachs-Mecarelli L., and Gubler M.C. H deficiency in two brothers with atypical dense intramembranous deposit disease Kidney Int 30 1986 949 956 (Pubitemid 17055724)
5. Walker P.D., Ferrario F., Joh K., and Bonsib S.M. Dense deposit disease is not a membranoproliferative glomerulonephritis Mod Pathol 20 2007 605 616 (Pubitemid 46788867)
6. Sethi S., Gamez J.D., and Vrana J.A. Glomeruli of Dense Deposit Disease contain components of the alternative and terminal complement pathway Kidney Int 75 2009 952 960
7. Servais A., Fremeaux-Bacchi V., and Lequintrec M. Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome J Med Genet 44 2007 193 199 (Pubitemid 46580528)
8. Berger J., Noel L., and Yaneva H. J Hamburger, Complement deposition in the kidney 4 1974 Year book medical publishers Chicago 37 48
9. Pickering M.C., Cook H.T., and Warren J. Uncontrolled C3 activation causes membranoproliferative glomerulonephritis in mice deficient in complement factor H Nat Genet 31 2002 424 428 (Pubitemid 35154455)
10. Hogasen K., Jansen J.H., Mollnes T.E., Hovdenes J., and Harboe M. Hereditary porcine membranoproliferative glomerulonephritis type II is caused by factor H deficiency J Clin Invest 95 1995 1054 1061
11. Dragon-Durey M.A., Fremeaux-Bacchi V., and Loirat C. Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases J Am Soc Nephrol 15 2004 787 795 (Pubitemid 38294810)
12. Vaziri-Sani F., Holmberg L., and Sjoholm A.G. Phenotypic expression of factor H mutations in patients with atypical hemolytic uremic syndrome Kidney Int 69 2006 981 988 (Pubitemid 43372172)
13. Levey A.S., Bosch J.P., Lewis J.B., Greene T., Rogers N., and Roth D. A more accurate method to estimate glomerular filtration rate from serum creatinine: a new prediction equation. Modification of Diet in Renal Disease study group Ann Intern Med 130 1999 461 470 (Pubitemid 29135798)
14. Fremeaux-Bacchi V., Dragon-Durey M.A., and Blouin J. Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome J Med Genet 41 2004 e84
15. Fremeaux-Bacchi V., Weiss L., Demouchy C., May A., Palomera S., and Kazatchkine M.D. Hypocomplementaemia of poststreptococcal acute glomerulonephritis is associated with C3 nephritic factor (C3NeF) IgG autoantibody activity Nephrol Dial Transplant 9 1994 1747 1750
16. Rose K.L., Paixao-Cavalcante D., and Fish J. Factor I is required for the development of membranoproliferative glomerulonephritis in factor H-deficient mice J Clin Invest 118 2008 608 618 (Pubitemid 351206550)
17. Pickering M.C., and Cook H.T. Translational mini-review series on complement factor H: renal diseases associated with complement factor H: novel insights from humans and animals Clin Exp Immunol 151 2008 210 230
18. Paixao-Cavalcante D., Hanson S., Botto M., Cook H.T., and Pickering M.C. Factor H facilitates the clearance of GBM bound iC3b by controlling C3 activation in fluid phase Mol Immunol 46 2009 1942 1950
19. Pickering M.C., Warren J., and Rose K.L. Prevention of C5 activation ameliorates spontaneous and experimental glomerulonephritis in factor H-deficient mice Proc Natl Acad Sci U S A 103 2006 9649 9654 (Pubitemid 43955879)
20. Sethi S.K., Marie-Agnes D.D., Thaker N., Hari P., and Bagga A. Hemolytic uremic syndrome due to homozygous factor H deficiency Clin Exp Nephrol 13 2009 526 530
21. Noris M., and Remuzzi G. Atypical hemolytic-uremic syndrome N Engl J Med 361 2009 1676 1687