Bibliografia

Libri di Testo

Kaplan BS. Inherited hemolytic-uremic syndrome. In: NORD Guide to Rare Disorders. Philadelphia, PA: Lippincott Williams & Wilkins; 2003:690-91.

Beers MH, Berkow R, eds. The Merck Manual, 17th ed. Whitehouse Station, NJ: Merck Research Laboratories; 1999;924-2225.

Revisioni della Letteratura Scientifica

Goodship TH et al. Atypical hemolytic uremic syndrome and C3 glomerulopathy: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference, Kidney Int, 91(3):539-551, 2017

Fakhouri F et al. Haemolytic uraemic syndrome, Lancet, Feb 23, 2017

Loirat C et al. An international consensus approach to the management of atypical hemolytic uremic syndrome, Pediatr Nephrol, 31: 15-39, 2016

Mele C, Remuzzi G, Noris M. Hemolytic uremic syndrome, Semin Immunopathol, 36: 399-420, 2014

Igarashi T et al. Guidelines for the management and investigation of hemolytic uremic syndrome, Clin Exp Nephrol, 18: 525-557, 2014

Noris M, Mescia F, Remuzzi G. STEC-HUS , atypical HUS and TTP are all diseases of complement activation, Nat Rev Nephrol, 8: 622-633, 2012

Noris M, Remuzzi G. Thrombotic microangiopathy after kidney transplantation. Am J Transplant. 2010;10(7):1517-23.

Noris M, Remuzzi G. Atypical hemolytic-uremic syndrome. N Engl J Med. 2009;361(17):1676-87.

Ariceta G et al. Guideline for the investigation and initial therapy of diarrhea-negative hemolytic uremic syndrome, Pediatr Nephrol, 24(4):687-96, 2009

Noris M, Remuzzi G. Hemolytic uremic syndrome, JASN, 16: 1035-1050, 2005

Ruggenenti P, Noris M, Remuzzi G. Thrombotic microangiopathy, hemolytic uremic syndrome, and thrombocytopenic purpura. Kidney Int. 2001;60:831-46.

Bosch T, Wendler T. Extracorporeal plasma treatment in thrombotic thrombocytopenic purpura and hemolytic uremic syndrome: a review. Ther Apher. 2001;5:182-85.

Taylor Cm. Hemolytic-uremic syndrome and complement factor H deficiency: clinical aspects. Semin Thromb Hemost. 2001;27:185-90.

Ault BH. Factor H and the pathogenesis of renal diseases. Pediatr nephrol. 2000;14:1045-53.

Neuhaus TJ, Calonder S, Leumann EP. Heterogeneity of atypical hemolytic uraemic syndromes. Arch Dis Child. 1997;76:518-21.

Articoli Scientifici

Beck BB et al. Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity, Pediatr Nephrol, 32(5):733-741, 2017

Bruel A et al. Hemolytic Uremic Syndrome in Pregnancy and Post-Partum. Clin J Am Soc Nephrol. 2017

Fakhouri F et al. Terminal Complement Inhibitor Eculizumab in Adult Patients With Atypical Hemolytic Uremic Syndrome: A Single-Arm, Open-Label Trial, Am J Kidney Dis, 68(1):84-93, 2016

Monteavaro CG et al. Adjustment of eculizumab dosage pattern in patients with atypical hemolytic uremic syndrome with suboptimal response to standard treatment pattern. Case Rep Nephrol, 2016

Coppo R et al. Liver transplantation for aHUS: still needed in the eculizumab era? Pediatr Nephrol, 31(5):759-68, 2015

Licht C et al. Efficacy and safety of eculizumab in atypical hemolytic uremic syndrome from 2-year extensions of phase 2 studies, Kidney Int, 87(5):1061-73, 2015

De Sousa AE et al. Eculizumab in pregnancy-associated atypical hemolytic uremic syndrome: insights for optimizing management. J Nephrol, 28(5):641-5, 2015

Mele C et al. Characterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic Syndrome, CJASN, 10 (6): 1011-1019, 2015

Hofer J et al. Extra renal manifestations of complement-mediated thrombotic microangiopathies, Front Pediatr, 8 (2): 97, 2014

Noris M, Remuzzi G. Cardiovascular complications in atypical hemolytic uremic syndrome. Nat Rev Nephrol, 10 (3): 174-80, 2014

Noris M et al. Dynamics of complement activation in aHUS and how to monitor eculizumab therapy. Blood, 124(11):1715-26, 2014

Legendre CM et al. Terminal complement inhibitor eculizumab in atypical hemolytic uremic syndrome, NEJM, 368: 2169-2181, 2013

Lemaire M et al. Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. Nat Genet. 2013;45:531-6

Eyler SJ et al. A novel hybrid CFHR1/CFH gene causes atypical hemolytic uremic syndrome, Pediatr Nephrol, 28(11):2221-5, 2013

Spinale JM et al. Update on Streptococcus pneumoniae associated hemolytic uremic syndrome. Curr Opin Pediatr, 25(2):203-8, 2013

Le Quintrec M et al. Complement genes strongly predict recurrence and graft outcome in adult renal transplant recipients with atypical hemolytic and uremic syndrome, Am J Transplant, 13 (3): 663-675, 2013

Bresin E et al. Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype, JASN, 24: 475-486, 2013

Zuber J et al. Eculizumab for atypical hemolytic uremic syndrome recurrence in renal transplantation. Am J Transplant, 12(12):3337-54, 2012

Zuber J et al. Use of eculizumab for atypical hemolytic uremic syndrome and C3 glomerulopathies, Nat Rev Nephrol, 8: 643-57, 2012

Roumenina LT et al. A prevalent C3 mutation in aHUS patients causes a direct C3 convertase gain of function, Blood, 119(18): 4182-4191, 2012

Richards A et al. Glomerular endothelial microvascular heterogeneity and response to cytokines predispose to development of atypical HUS, Mol Immunol, 48: 1732, 2011

Noris M et al. Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype. Clin J Am Soc Nephrol. 2010;5(10):1844-59.

Nilsson SC et al. Mutations in complement factor I as found in atypical hemolytic uremic syndrome lead to either altered secrection or altered function of factor I, Eur J Immunol, 40 (1): 172-185, 2010

Fakhouri F et al. Pregnancy-associated hemolytic uremic syndrome revisited in the era of complement gene mutations. J Am Soc Nephrol, 21(5):859-67, 2010

Zipfel PF et al. DEAP-HUS: deficiency of CFHR plasma proteins and autoantibody-positive form of HUS, Pediatr Nephrol, 25:2009-2019, 2010

Nilsson SC et al. Mutations in complement factor I as found in atypical hemolytic uremic syndrome lead to either altered secrection or altered function of factor I, Eur J Immunol, 40 (1): 172-185, 2010

Bienaime et al. Mutations in components of complement influence the outcome of factor I – associated atypical hemolytic uremic syndrome, Kidney Int, 77 (4): 339-349, 2010

Gruppo RA et al. Eculizumab for congenital atypical hemolytic uremic syndrome, NEJM, 360: 544-6, 2009

Delvaeye M et al. Thrombomodulin mutations in atypical hemolytic uremic syndrome, NEJM, 361: 345-357, 2009

Saland JM, Ruggenenti P, Remuzzi G; Consensus Study Group. Liver-kidney transplantation to cure atypical hemolytic uremic syndrome. J Am Soc Nephrol. 2009;20(5):940-9.

Le Quintrec M et al. Complement mutation-associated de novo thrombotic microangiopathy following kidney transplantation, Am J Transplant, 8(8):1694-701, 2008

Fremeaux-Bacchi V et al. Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome. Blood, 112 (13): 4948-4952, 2008

Richards A et al, Implications of the initial mutations in membrane cofactor protein (MCP; CD46) leading to atypical hemolytic uremic syndrome, Mol Immunol, 44(1-3):111-22, 2007

Kavanagh D et al. Screening for complement system abnormalities in patients with atypical hemolytic uremic syndrome, Clin J Am Soc Nephrol. 2007 May;2(3):591-6

Goicoechea de Jorge E et al. Gain of function mutations in complement factor B are associated with atypical hemolytic uremic syndrome, PNAS, 104 (1): 240-245, 2006

Fremeaux-Bacchi V et al. Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome, JASN, 17: 2017-2025, 2006

Bresin E et al. Outcome of renal transplantation in patients with non-Shiga toxin-associated hemolytic uremic syndrome: prognostic significance of genetic background, CJASN, 1 (1): 88- 99, 2006

Caprioli J et al. Genetics of HUS: the impact of MCP, CFH and IF mutations on clinical presentation, response to treatment and outcome, Blood, 108 (4): 1267-1279, 2006

Venables JP et al. Atypical haemolytic uraemic syndrome associated with a hybrid complement gene, PLoS Med, 3(10):e431, 2006

Esparza-Gordillo J et al. Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32, Hum Mol Genet, 14(5):703-12, 2005

Tarr PI, Gordon CA, Chandler WL. Shiga toxin producing Escherichia coli and haemolytic uraemic syndrome. Lancet, 365: 1073-1086, 2005

Rodriguez de Cordoba S et al. The human complement factor H: functional roles, genetic variations and disease associations, Mol Immunol, 41(4):355-67, 2004

Veyradier A et al. Severe deficiency of the specific von Willebrand factor-cleaving protease (ADAMTS 13) activity in a subgroup of children with atypical hemolytic uremic syndrome. J Pediatr. 2003;142(3):310-17

Caprioli J et al (International Registry of Recurrent and Familial HUS/TTP). Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease. Hum Mol Genet. 2003; 12(24):3385-95.

Noris M et al (International Registry of Recurrent and Familial HUS/TTP). Familial haemolytic uraemic syndrome and an MCP mutation. Lancet. 2003; 362(9395):1542-7.

Caprioli J et al. The molecular basis of familial hemolytic uremic syndrome: Mutation analysis of factor H gene reveals a hot spot in short consensus repeat 20, JASN, 12:297-307, 2001

Taylor Cm. Hemolytic-uremic syndrome and complement factor H deficiency: clinical aspects. Semin Thromb Hemost. 2001;27:185-90.

Quan A, Sullivan EK, Alexander SR. Recurrence of hemolytic uremic syndrome after renal transplantation in children: a report of the North American Pediatric Renal Transplant Cooperative Study. Transplantation. 2001;72:742-45.

Magen D et al. Plasmapheresis in a very young infant with atypical hemolytic uremic syndrome. Pediatr Nephrol. 2001;16:87-90.

Richards A et al. Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition. Am J Hum Genet. 2001; 68:485-90.

Buddles MR et al. Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome. Am J Hum Genet. 2000;66:1721-22.

Noris M et al. Hypocomplementemia discloses genetic predisposition to hemolytic uremic syndrome and thrombotic thrombocytopenic purpura: role of factor H abnormalities. Italian Registry of Familial and Recurrent Hemolytic Uremic Syndrome/Thrombotic Thrombocytopenic Purpura, JASN, 10(2):281-93, 1999

Devaux P et al. Control of C3b and C5b deposition by CD46 (membrane cofactor protein) after alternative but not classical complement activation. Eur J Immunol, 29: 815-22, 1999

Kaplan BS, Meyers KE, Schulman SL. The pathogenesis and treatment of hemolytic uremic syndrome. J AM Soc Nephrol. 1998;9:1126-33.

Furlan M et al. von Willebrand factor-cleaving protease in thrombotic thrombocytopenic purpura and the hemolytic-uremic syndrome, N Engl J Med, 26;339(22):1578-84, 1998

Warwicker P et al. Genetic studies into inherited and sporadic hemolytic uremic syndrome, Kidney Int, 53: 836-844, 1998

Kaplan BS, Meyers KE, Schulman SL. The pathogenesis and treatment of hemolytic uremic syndrome. J AM Soc Nephrol. 1998; 9:1126-33.

Sitografia

Noris M, Bresin E, Mele C, Remuzzi G, Caprioli J. (Updated June 9, 2016). Genetic Atypical Hemolytic-Uremic Syndrome. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1993-2012. www.genetests.org

Online Mendelian Inheritance in Man (OMIM). The Johns Hopkins University. Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 1; AHUS1. Entry No: 235400. Last Edited November 28, 2011. www.ncbi.nlm.nih.gov/omim

Loirat C, Frémeaux-Bacchi V. Atypical hemolytic uremic syndrome, Orphanet J Rare Dis, 6:60, 2011. www.orpha.net

National Kidney and Urologic Diseases Information Clearinghouse (NKUDIC) kidney.niddk.nih.gov. Last Updated September 2, 2010