Age-Related Penetrance of Hereditary Atypical Hemolytic Uremic Syndrome

Annals of Human Genetics

Volumn 75, Issue 6, 2011, Pages 639-647

  Sullivan, Maren ^a   Rybicki, Lisa A ^b,c   Winter, Aurelia ^a   Hoffmann, Michael M ^d   Reiermann, Stefanie ^e   Linke, Hannah ^e   Arbeiter, Klaus ^f   Patzer, Ludwig ^g   Budde, Klemens ^h   Hoppe, Bernd ⁱ   Zeier, Martin ^j   Lhotta, Karl ^k   Bock, Andreas ^l   Wiech, Thorsten ^d   Gaspert, Ariana ^m   Fehr, Thomas ^m   Woznowski, Magdalena ⁿ   Berisha, Gani ^a   Malinoc, Angelica ^a   Goek, Oemer Necmi ^a   Eng, Charis ^b,c   Neumann, Hartmut Ph ^a   more..

^a UNIVERSITY OF FREIBURG   (Germany)

^b LERNER RESEARCH INSTITUTE   (United States)

^c TAUSSIG CANCER INSTITUTE   (United States)

^d UNIVERSITY OF FREIBURG   (Germany)

^e UNIVERSITY OF MÜNSTER   (Germany)

^f UNIVERSITY OF VIENNA   (Austria)

^g MARTIN LUTHER UNIVERSITÄT HALLE WITTENBERG   (Germany)

^h CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

ⁱ UNIVERSITY OF COLOGNE   (Germany)

^j UNIVERSITY OF HEIDELBERG   (Germany)

^k GENERAL HOSPITAL KLAGENFURT   (Austria)

^l CANTONAL HOSPITAL AARAU   (Switzerland)

^m UNIVERSITY HOSPITAL ZURICH   (Switzerland)

ⁿ HEINRICH HEINE UNIVERSITY   (Germany)

more..

Author keywords

Age related penetrance estimations; CD46; Complement factor H (CFH); Complement factor I (CFI); Hemolytic uremic syndrome; Membrane cofactor protein (MPC)

Indexed keywords

COMPLEMENT FACTOR H; COMPLEMENT FACTOR I; MEMBRANE COFACTOR PROTEIN;

ADOLESCENT; ADULT; AGE; ARTICLE; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DEMOGRAPHY; DISEASE REGISTRY; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; GENETIC SUSCEPTIBILITY; GERMLINE MUTATION; HEMOLYTIC UREMIC SYNDROME; HEREDITARY ATYPICAL HEMOLYTIC UREMIC SYNDROME; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PARENT; PENETRANCE; PRESCHOOL CHILD; PRIORITY JOURNAL; RELATIVE; SCHOOL CHILD;

ADOLESCENT; ADULT; AGED; AGING; ANTIGENS, CD46; CHILD; COMPLEMENT FACTOR H; COMPLEMENT FACTOR I; FEMALE; HEMOLYTIC-UREMIC SYNDROME; HUMANS; MALE; MIDDLE AGED; MUTATION; PENETRANCE;

EID: 80053572803     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/j.1469-1809.2011.00671.x     Document Type: Article

References (28)

1. Al-Akash, S. I., Almond, P. S., Savell, V. H., Jr., Gharaybeh, S. I., & Hogue, C. (2011) Eculizumab induces long-term remission in recurrent post-transplant HUS associated with C3 gene mutation. Pediatr Nephrol 26, 613-619.
2. Caprioli, J., Bettinaglio, P., Zipfel, P. F., Amadei, B., Daina, E., Gamba, S., Skerka, C., Marziliano, N., Remuzzi, G., & Noris, M. (2001) The molecular basis of familial hemolytic uremic syndrome: Mutation analysis of factor H gene reveals a hot spot in short consensus repeat 20. J Am Soc Nephrol 12, 297-307.
3. Caprioli, J., Noris, M., Brioschi, S., Pianetti, G., Castelletti, F., Bettinaglio, P., Mele, C., Bresin, E., Cassis, L., Gamba, S., Porrati, F., Bucchioni, S., Monteferrante, G., Fang, C. J., Liszewski, M. K., Kavanagh, D., Atkinson, J. P., & Remuzzi, G. (2006) Genetics of HUS: The impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome. Blood, 108, 1267-1279.
4. Delvaeye, M., Noris, M., De Vriese, A., Esmon, C. T., Esmon, N. L., Ferrell, G., Del-Favero, J., Plaisance, S., Claes, B., Lambrechts, D., Zoja, C., Remuzzi, G., & Conway, E. M. (2009) Thrombomodulin mutations in atypical hemolytic-uremic syndrome. N Engl J Med 3610, 345-357.
5. Dragon-Durey, M. A., Loirat, C., Cloarec, S., Macher, M. A., Blouin, J., Nivet, H., Weiss, L., Fridman, W. H., & Fremeaux-Bacchi, V. (2005) Anti-factor H autoantibodies associated with atypical hemolytic uremic syndrome. J Am Soc Nephrol 16, 555-563.
6. Eng, C. (2010) Mendelian genetics of rare-and not so rare-cancers. Ann NY Acad Sci 1214, 70-82.
7. Erlic, Z., Hoffmann, M. M., Sullivan, M., Franke, G., Peczkowska, M., Harsch, I., Schott, M., Gabbert, H. E., Valimaki, M., Preuss, S. F., Hasse-Lazar, K., Waligorski, D., Robledo, M., Januszewicz, A., Eng, C., & Neumann, H. P. (2010) Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome. J Clin Endocrinol Metabol 95, 308-313.
8. Evans, D. G., Shenton, A., Woodward, E., Lalloo, F., Howell, A., & Maher, E. R. (2008) Penetrance estimates for BRCA1 and BRCA2 based on genetic testing in a Clinical Cancer Genetics service setting: risks of breast/ovarian cancer quoted should reflect the cancer burden in the family. BMC Cancer 8, 155.
9. Fremeaux-Bacchi, V., Dragon-Durey, M. A., Blouin, J., Vigneau, C., Kuypers, D., Boudailliez, B., Loirat, C., Rondeau, E., & Fridman, W. H. (2004) Complement factor I: A susceptibility gene for atypical haemolytic uraemic syndrome. J Med Genet 41, e84.
10. Fremeaux-Bacchi, V., Miller, E. C., Liszewski, M. K., Strain, L., Blouin, J., Brown, A. L., Moghal, N., Kaplan, B. S., Weiss, R. A., Lhotta, K., Kapur, G., Mattoo, T., Nivet, H., Wong, W., Gie, S., Hurault D. E., Ligny, B., Fischbach, M., Gupta, R., Hauhart, R., Meunier, V., Loirat, C., Dragon-Durey, M. A., Fridman, W. H., Janssen, B. J., Goodship, T. H., & Atkinson, J. P. (2008) Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome. Blood 112, 4948-4952.
11. Fremeaux-Bacchi, V., Moulton, E. A., Kavanagh, D., Dragon-Durey, M. A., Blouin, J., Caudy, A., Arzouk, N., Cleper, R., Francois, M., Guest, G., Pourrat, J., Seligman, R., Fridman, W. H., Loirat, C., & Atkinson, J. P. (2006) Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome. J Am Soc Nephrol 17, 2017-2025.
12. Goodship, T. H. (2006) Atypical HUS and complement dysregulation. J Am Soc Nephrol 17, 1775-1776.
13. Heinen, S., Sanchez-Corral, P., Jackson, M. S., Strain, L., Goodship, J. A., Kemp, E. J., Skerka, C., Jokiranta, T. S., Meyers, K., Wagner, E., Robitaille, P., Esparza-Gordillo, J., Rodriguez, D. E., Cordoba, S., Zipfel, P. F., & Goodship, T. H. (2006) De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome. Hum Mutat 27, 292-293.
14. Kavanagh, D., & Goodship, T. H. (2010) Atypical hemolytic uremic syndrome. Curr Opin Hematol 17, 432-438.
15. Kavanagh, D., Richards, A., & Atkinson, J. (2008) Complement regulatory genes and hemolytic uremic syndromes. Annu Rev Med 59, 293-309.
16. Kose, O., Zimmerhackl, L. B., Jungraithmayr, T., Mache, C., & Nurnberger, J. (2010) New treatment options for atypical hemolytic uremic syndrome with the complement inhibitor eculizumab. Semin Thromb Hemost 36, 669-672.
17. Liszewski, M. K., Post, T. W., & Atkinson, J. P. (1991) Membrane cofactor protein (MCP or CD46): Newest member of the regulators of complement activation gene cluster. Annu Rev Immunol 9, 431-455.
18. Liu, J., Hutzler, M., Li, C., & Pechet, L. (2001) Thrombotic thrombocytopenic purpura (TTP) and hemolytic uremic syndrome (HUS): The new thinking. J Thromb Thrombolysis 11, 261-272.
19. Moore, I., Strain, L., Pappworth, I., Kavanagh, D., Barlow, P. N., Herbert, A. P., Schmidt, C. Q., Staniforth, S. J., Holmes, L. V., Ward, R., Morgan, L., Goodship, T. H., & Marchbank, K. J. (2010) Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome. Blood 115, 379-387.
20. Neumann, H. P., Salzmann, M., Bohnert-Iwan, B., Mannuelian, T., Skerka, C., Lenk, D., Bender, B. U., Cybulla, M., Riegler, P., Konigsrainer, A., Neyer, U., Bock, A., Widmer, U., Male, D. A., Franke, G., & Zipfel, P. F. (2003) Haemolytic uraemic syndrome and mutations of the factor H gene: A registry-based study of German speaking countries. J Med Genet 40, 676-681.
21. Noris, M., Brioschi, S., Caprioli, J., Todeschini, M., Bresin, E., Porrati, F., Gamba, S., & Remuzzi, G. (2003) Familial haemolytic uraemic syndrome and an MCP mutation. Lancet 362, 1542-1547.
22. Noris, M., Caprioli, J., Bresin, E., Mossali, C., Pianetti, G., Gamba, S., Daina, E., Fenili, C., Castelletti, F., Sorosina, A., Piras, R., Donadelli, R., Maranta, R., Van Der Meer, I., Conway, E. M., Zipfel, P. F., Goodship, T. H., & Remuzzi, G. (2010) Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype. Clin J Am Soc Nephrol 5, 1844-1859.
23. Richards, A., Buddles, M. R., Donne, R. L., Kaplan, B. S., Kirk, E., Venning, M. C., Tielemans, C. L., Goodship, J. A., & Goodship, T. H. (2001) Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition. Am J Hum Genet 68, 485-490.
24. Sanchez-Corral, P., Perez-Caballero, D., Huarte, O., Simckes, A. M., Goicoechea, E., Lopez-Trascasa, M., & De Cordoba, S. R. (2002) Structural and functional characterization of factor H mutations associated with atypical hemolytic uremic syndrome. Am J Hum Genet 71, 1285-1295.
25. Sullivan, M., Erlic, Z., Hoffmann, M. M., Arbeiter, K., Patzer, L., Budde, K., Hoppe, B., Zeier, M., Lhotta, K., Rybicki, L. A., Bock, A., Berisha, G., & Neumann, H. P. (2010) Epidemiological approach to identifying genetic predispositions for atypical hemolytic uremic syndrome. Ann Hum Genet 74, 17-26.
26. Vyse, T. J., Morley, B. J., Bartok, I., Theodoridis, E. L., Davies, K. A., Webster, A. D., & Walport, M. J. (1996) The molecular basis of hereditary complement factor I deficiency. J Clin Invest 97, 925-933.
27. Warwicker, P., Goodship, T. H., Donne, R. L., Pirson, Y., Nicholls, A., Ward, R. M., Turnpenny, P., & Goodship, J. A. (1998) Genetic studies into inherited and sporadic hemolytic uremic syndrome. Kidney Int 53, 836-844.
28. Zipfel, P. F., Heinen, S., & Skerka, C. (2010) Thrombotic microangiopathies: New insights and new challenges. Curr Opin Nephrol Hypertens 19, 372-378.