Late-onset thrombocytic microangiopathy caused by cblC disease: Association with a factor H mutation

American Journal of Kidney Diseases

Volumn 45, Issue 3, 2005, Pages 588-595

  Guigonis, Vincent ^b   Frémeaux Bacchi, Véronique ^b   Giraudier, Stéphane ^b   Favier, Rémi ^b   Borderie, Didier ^b   Massy, Ziad ^b   Mougenot, Béatrice ^b   Rosenblatt, David S ^b   Deschênes, Georges ^a  

^a ARMAND TROUSSEAU HOSPITAL   (France)

^b NONE

Author keywords

Childhood; Cobalamin derivatives; Complement regulators; Hemolytic uremic syndrome

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); BETAINE; COBALAMIN; COMPLEMENT FACTOR H; FOLIC ACID; HAPTOGLOBIN; HYDROXOCOBALAMIN;

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; CYANOCOBALAMIN DEFICIENCY; DISEASE SEVERITY; ENDOTHELIUM LESION; FEMALE; GENE MUTATION; HEMOLYTIC UREMIC SYNDROME; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; KIDNEY BIOPSY; KIDNEY FAILURE; LABORATORY TEST; NEUROLOGIC DISEASE; PROTEINURIA; THROMBOTIC THROMBOCYTOPENIC PURPURA; TREATMENT OUTCOME;

EID: 14844321537     PISSN: 02726386     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.ajkd.2004.12.004     Document Type: Article

References (37)

1. C. Gasser, E. Gautier, A. Steck, R. Siebenmann, R. Oeschlin Hämolytisch-Urämische syndrome bilaterale nierenrindennekrosen bei akuten erworbenen hämolytischen anemien Schweiz Med Wschr 85 1955 905 909
2. R. Habib, H. Mathieu, P. Royer Maladie thrombotique arté riolocapillaire du rein chez l'enfant Rev Fr Et Clin Biol 3 1958 891 895
3. J.L. Moake Thrombotic microangiopathies N Engl J Med 347 2002 589 600
4. M. Furlan, R. Robles, M. Galbusera von Willebrand factor-cleaving protease in thrombotic thrombocytopenic purpura and the hemolytic-uremic syndrome N Engl J Med 339 1998 1578 1584
5. G.G. Levy, W.C. Nichols, E.C. Lian Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura Nature 413 2001 488 494
6. M. Noris, S. Brioschi, J. Caprioli Familial haemolytic uraemic syndrome and an MCP mutation Lancet 362 2003 1542 1547
7. V. Fremeaux-Bacchi, M.A. Dragon-Durey, J. Blouin Complement factor I A susceptibility gene for atypical haemolytic uraemic syndrome J Med Genet 41 2004 e84
8. R.A. Thompson, M.H. Winterborn Hypocomplementaemia due to a genetic deficiency of beta 1H globulin Clin Exp Immunol 46 1981 110 119
9. M. Geraghty, E. Perlman, L. Martin Cobalamin C defect associated with hemolytic-uremic syndrome J Pediatr 120 1992 934 937
10. T. Kind, J. Levy, M. Lee, S. Kaicker, J. Nicholson, S. Kane Cobalamin C disease presenting as hemolytic-uremic syndrome in the neonatal period J Pediatr Hematol Oncol 24 2002 327 329
11. C.M. Taylor Complement factor H and the haemolytic uraemic syndrome Lancet 358 2001 1200 1202
12. A. Veyradier, B. Obert, E. Haddad 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 142 2003 310 317
13. H. Neumann, M. Salzmann, B. Bohnert-Iwan Haemolytic uraemic syndrome and mutations of the factor H gene A registry-based study of German speaking countries J Med Genet 40 2003 676 681
14. I. Mellman, H. Willard, P. Youngdahl-Turner, L. Rosenberg Cobalamin coenzyme synthesis in normal and mutant human fibroblasts Evidence for a processing enzyme activity deficient in cblC cells J Biol Chem 254 1979 11847 11853
15. S. Byck, D. Rosenblatt Metabolic cooperation among cell lines from patients with inborn errors of vitamin B12 metabolism Differential response of cblC and cblD Clin Invest Med 14 1991 153 159
16. K. Sastry, R. Moudgal, J. Mohan, J. Tyagi, G. Rao Spectrophotometric determination of serum nitrite and nitrate by copper-cadmium alloy Anal Biochem 306 2002 79 82
17. Z. Massy, C. Fumeron, D. Borderie Increased plasma S-nitrosothiol concentrations predict cardiovascular outcomes among patients with end-stage renal disease A prospective study J Am Soc Nephrol 15 2004 470 476
18. R. Banerjee, S. Ragsdale The many faces of vitamin B12 Catalysis by cobalamin-dependent enzymes Annu Rev Biochem 72 2003 209 247
19. R. Carmel, R. Green, D. Rosenblatt, D. Watkins Update on cobalamin, folate, and homocysteine Hematology (Am Soc Hematol Educ Program) 1 2003 62 81
20. P. Labrune, J. Zittoun, I. Duvaltier Haemolytic uraemic syndrome and pulmonary hypertension in a patient with methionine synthase deficiency Eur J Pediatr 158 1999 734 739
21. G. Enns, A. Barkovich, D. Rosenblatt Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin J Inherit Metab Dis 22 1999 599 607
22. O. Bodamer, D. Rosenblatt, S. Appel, A. Beaudet Adult-onset combined methylmalonic aciduria and homocystinuria (cblC) Neurology 56 2001 1113
23. E. Roze, D. Gervais, S. Demeret Neuropsychiatric disturbances in presumed late-onset cobalamin C disease Arch Neurol 60 2003 1457 1462
24. P. Augoustides-Savvopoulou, I. Mylonas, A. Sewell, D. Rosenblatt Reversible dementia in an adolescent with cblC disease Clinical heterogeneity within the same family J Inherit Metab Dis 22 1999 756 758
25. J. Van Hove, R. Van Damme-Lombaerts, S. Grunewald Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy Am J Med Genet 111 2002 195 201
26. D. Rosenblatt, A. Aspler, M. Shevell, B. Pletcher, W. Fenton, M. Seashore Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC) J Inherit Metab Dis 20 1997 528 538
27. R. Lubrano, P. Scoppi, P. Barsotti Kidney transplantation in a girl with methylmalonic acidemia and end stage renal failure Pediatr Nephrol 16 2001 848 851
28. J. Guilland, A. Favier, G. Potier de Courcy, P. Galan, S. Hercberg Hyperhomocysteinemia: An independent risk factor or a simple marker of vascular disease: 1. Basic data Pathol Biol (Paris) 51 2003 101 110
29. D. Rosenblatt, V. Whitehead Cobalamin and folate deficiency Acquired and hereditary disorders in children Semin Hematol 36 1999 19 34
30. F. Jiang, C. Li, M. Rand Effect of hydroxocobalamin on vasodilatations to nitrergic transmitter, nitric oxide and endothelium-derived relaxing factor in guinea-pig basilar artery Eur J Pharmacol 340 1997 181 186
31. B.H. Ault, B.Z. Schmidt, N.L. Fowler Human factor H deficiency Mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism J Biol Chem 272 1997 25168 25175
32. M. Dragon-Durey, V. Fremeaux-Bacchi, C. Loirat 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
33. S. Rodriguez de Cordoba, J. Esparza-Gordillo, E. Goicoechea de Jorge, M. Lopez-Trascasa, P. Sanchez-Corral The human complement factor H Functional roles, genetic variations and disease associations Mol Immunol 41 2004 355 367
34. T. Manuelian, J. Hellwage, S. Meri Mutations in factor H reduce binding affinity to C3b and heparin and surface attachment to endothelial cells in hemolytic uremic syndrome J Clin Invest 111 2003 1181 1190
35. R. Pio, A. Martinez, E.J. Unsworth Complement factor H is a serum-binding protein for adrenomedullin, and the resulting complex modulates the bioactivities of both partners J Biol Chem 276 2001 12292 12300
36. A. Martinez, R. Pio, P.F. Zipfel, F. Cuttitta Mapping of the adrenomedullin-binding domains in human complement factor H Hypertens Res 26 suppl 2003 S55 S59
37. H. Nishimatsu, Y. Hirata, T. Shindo Role of endogenous adrenomedullin in the regulation of vascular tone and ischemic renal injury Studies on transgenic/knockout mice of adrenomedullin gene Circ Res 90 2002 657 663