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Volumn 17, Issue 10, 2002, Pages 800-803

Cobalamin C deficiency complicated by an atypical glomerulopathy

Author keywords

Atypical glomerulopathy; Cobalamin C deficiency; Homocystinemia; Homocystinuria; Membranoproliferative glomerulonephritis; Methylmalonic acidemia; Methylmalonic aciduria; Serum complement; Thrombotic microangiopathy

Indexed keywords

ACETYLSALICYLIC ACID; BETAINE; CALCITRIOL; CALCIUM CARBONATE; CLONIDINE; COBALAMIN; COMPLEMENT; COMPLEMENT COMPONENT C3; CORTICOSTEROID; CREATININE; CYANOCOBALAMIN; ENALAPRIL; HOMOCYSTEINE; IMMUNOGLOBULIN G; METHIONINE; METHYLMALONIC ACID; UREA;

EID: 0036947315     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-002-0895-1     Document Type: Article
Times cited : (41)

References (37)
  • 1
    • 0001362219 scopus 로고
    • Disorders of propionate and methylmalonate metabolism
    • Scriver CR, Sly WS, Valle D (eds) McGraw-Hill, New York
    • Fenton WA, Rosenberg LE (1995) Disorders of propionate and methylmalonate metabolism. In: Scriver CR, Sly WS, Valle D (eds) The metabolic bases of inherited disease. McGraw-Hill, New York, pp 1423-1449
    • (1995) The Metabolic Bases of Inherited Disease , pp. 1423-1449
    • Fenton, W.A.1    Rosenberg, L.E.2
  • 2
    • 0016836319 scopus 로고
    • Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism
    • Gravel RA, Mahoney MJ, Ruddle FH, Rosenberg LE (1975) Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism. Proc Natl Acad Sci U S A 72:3181-3185
    • (1975) Proc. Natl. Acad. Sci. U S A , vol.72 , pp. 3181-3185
    • Gravel, R.A.1    Mahoney, M.J.2    Ruddle, F.H.3    Rosenberg, L.E.4
  • 3
    • 0000167774 scopus 로고
    • Disorders of transsulfuration
    • Scriver CR, Sly WS, Valle D (eds) McGraw-Hill, New York
    • Mudd SH, Levy HL, Skovby F (1995) Disorders of transsulfuration. In: Scriver CR, Sly WS, Valle D (eds) The metabolic bases of inherited disease. McGraw-Hill, New York, pp 1279-1327
    • (1995) The Metabolic Bases of Inherited Disease , pp. 1279-1327
    • Mudd, S.H.1    Levy, H.L.2    Skovby, F.3
  • 4
    • 0023077153 scopus 로고
    • Inherited defects of vitamin B12 metabolism
    • Cooper BA, Rosenblatt DS (1987) Inherited defects of vitamin B12 metabolism. Annu Rev Nutr 7:291-320
    • (1987) Annu. Rev. Nutr. , vol.7 , pp. 291-320
    • Cooper, B.A.1    Rosenblatt, D.S.2
  • 6
    • 0026720833 scopus 로고
    • A congenital anomaly of vitamin B12 metabolism: A study of three cases
    • Russo P, Doyon J, Sonsino E, Ogier H, Saudbray JM (1992) A congenital anomaly of vitamin B12 metabolism: a study of three cases. Hum Pathol 23:504-512
    • (1992) Hum. Pathol. , vol.23 , pp. 504-512
    • Russo, P.1    Doyon, J.2    Sonsino, E.3    Ogier, H.4    Saudbray, J.M.5
  • 8
    • 0018834062 scopus 로고
    • Congenital methylmalonic aciduria-homocystinuria with megaloblastic anemia: Observations on response to hydroxocobalamin and the effect of homocysteine and methionine on deoxyuridine suppression test
    • Carmel R, Bedros AA, Mace JW, Goodman SI (1980) Congenital methylmalonic aciduria-homocystinuria with megaloblastic anemia: observations on response to hydroxocobalamin and the effect of homocysteine and methionine on deoxyuridine suppression test. Blood 55:570-579
    • (1980) Blood , vol.55 , pp. 570-579
    • Carmel, R.1    Bedros, A.A.2    Mace, J.W.3    Goodman, S.I.4
  • 9
    • 0018690479 scopus 로고
    • Congenital defect in intracellular cobalamin metabolism resulting in homocystinuria and methylmalonic aciduria. I. Case report and histopathology
    • Baumgartner ER, Wick H, Maurer R, Egli N, Steinmann B (1979) Congenital defect in intracellular cobalamin metabolism resulting in homocystinuria and methylmalonic aciduria. I. Case report and histopathology. Helv Paediatr Acta 34:465-482
    • (1979) Helv. Paediatr. Acta , vol.34 , pp. 465-482
    • Baumgartner, E.R.1    Wick, H.2    Maurer, R.3    Egli, N.4    Steinmann, B.5
  • 10
    • 0014748026 scopus 로고
    • A derangement in B12 metabolism associated with homocystinemia, cystathionemia, hypomethioninemia, and methylmalonic aciduria
    • Levy HL, Mudd SH, Schulman JD, Dreyfus PM, Abeles RH (1970) A derangement in B12 metabolism associated with homocystinemia, cystathionemia, hypomethioninemia, and methylmalonic aciduria. Am J Med 48:390-397
    • (1970) Am. J. Med. , vol.48 , pp. 390-397
    • Levy, H.L.1    Mudd, S.H.2    Schulman, J.D.3    Dreyfus, P.M.4    Abeles, R.H.5
  • 11
    • 0027693593 scopus 로고
    • Neonatal hemolytic-uremic syndrome, methylmalonic aciduria and homocystinuria caused by intracellular vitamin B12 deficiency. Value of etiological diagnosis
    • Chenel C, Wood C, Gourrier E, Zittoun J, Casadevall I, Ogier H (1993) Neonatal hemolytic-uremic syndrome, methylmalonic aciduria and homocystinuria caused by intracellular vitamin B12 deficiency. Value of etiological diagnosis. Arch Francais Pediatr 50:749-754
    • (1993) Arch. Francais Pediatr. , vol.50 , pp. 749-754
    • Chenel, C.1    Wood, C.2    Gourrier, E.3    Zittoun, J.4    Casadevall, I.5    Ogier, H.6
  • 13
    • 0029035831 scopus 로고
    • Long-term follow-up of 77 patients with isolated methylmalonic acidaemia
    • Baumgartner ER, Viardot C (1995) Long-term follow-up of 77 patients with isolated methylmalonic acidaemia. J Inher Metab Dis 18:138-142
    • (1995) J. Inher. Metab. Dis. , vol.18 , pp. 138-142
    • Baumgartner, E.R.1    Viardot, C.2
  • 20
    • 0018765693 scopus 로고
    • Methylmalonic acidemia: Six years' clinical experience with two variants unresponsive to vitamin B12 therapy
    • Whelan DT, Ryan E, Spate M, Morris M, Hurley RM, Hill R (1979) Methylmalonic acidemia: six years' clinical experience with two variants unresponsive to vitamin B12 therapy. Can Med Assoc J 120:1230-1235
    • (1979) Can. Med. Assoc. J. , vol.120 , pp. 1230-1235
    • Whelan, D.T.1    Ryan, E.2    Spate, M.3    Morris, M.4    Hurley, R.M.5    Hill, R.6
  • 21
    • 0025324674 scopus 로고
    • Cor pulmonale as a complication of methylmalonic acidemia and homocystinuria (Cbl-C type)
    • Brandstetter Y, Weinhouse E, Splaingrad ML, Tang TT (1990) Cor pulmonale as a complication of methylmalonic acidemia and homocystinuria (Cbl-C type). Am J Med Genet 36:167-171
    • (1990) Am. J. Med. Genet. , vol.36 , pp. 167-171
    • Brandstetter, Y.1    Weinhouse, E.2    Splaingrad, M.L.3    Tang, T.T.4
  • 22
    • 0016584397 scopus 로고
    • Determination of orotic acid and dihydroorotic acids in biological fluids and tissues
    • Kesner L, Aronson FL, Silverman M, Chan PC (1975) Determination of orotic acid and dihydroorotic acids in biological fluids and tissues. Clin Chem 21:353-355
    • (1975) Clin. Chem. , vol.21 , pp. 353-355
    • Kesner, L.1    Aronson, F.L.2    Silverman, M.3    Chan, P.C.4
  • 23
    • 0021615191 scopus 로고
    • Cbl C mutation (methylmalonic aciduria and homocystinuria) in adolescence. A treatable cause of dementia and myelopathy
    • Shinnar S, Singer HS (1984) Cbl C mutation (methylmalonic aciduria and homocystinuria) in adolescence. A treatable cause of dementia and myelopathy. N Engl J Med 311:451-454
    • (1984) N. Engl. J. Med. , vol.311 , pp. 451-454
    • Shinnar, S.1    Singer, H.S.2
  • 24
    • 0000436048 scopus 로고
    • Experimental production of renal glycosuria, phosphaturia, and aminoaciduria by injection of maleic acid
    • Harrison HE, Harrison HC (1954) Experimental production of renal glycosuria, phosphaturia, and aminoaciduria by injection of maleic acid. Science 120:606-608
    • (1954) Science , vol.120 , pp. 606-608
    • Harrison, H.E.1    Harrison, H.C.2
  • 26
    • 0027531427 scopus 로고
    • Loscalzo Adverse vascular effects of homocysteine are modulated by endothelium-derived relaxing factor and related oxides of nitrogen
    • Stammler JS, Osbourne JA, Jaraki O, Rabbani LE, Mullins M, Singel D, Loscalzo (1993) Adverse vascular effects of homocysteine are modulated by endothelium-derived relaxing factor and related oxides of nitrogen. Clin Invest 91:308-318
    • (1993) Clin. Invest. , vol.91 , pp. 308-318
    • Stammler, J.S.1    Osbourne, J.A.2    Jaraki, O.3    Rabbani, L.E.4    Mullins, M.5    Singel, D.6
  • 27
    • 0026345948 scopus 로고
    • Inhibition of thrombomodulin surface expression and protein C activation by the thrombogenic agent homocysteine
    • Lentz SR, Sadler JE (1991) Inhibition of thrombomodulin surface expression and protein C activation by the thrombogenic agent homocysteine. J Clin Invest 88:1906-1914
    • (1991) J. Clin. Invest. , vol.88 , pp. 1906-1914
    • Lentz, S.R.1    Sadler, J.E.2
  • 28
    • 0027288252 scopus 로고
    • Homocysteine-induced modulation of tissue plasminogen activator binding to its endothelial cell membrane receptor
    • Hajjar KA (1993) Homocysteine-induced modulation of tissue plasminogen activator binding to its endothelial cell membrane receptor. J Clin Invest 91:2873-2879
    • (1993) J. Clin. Invest. , vol.91 , pp. 2873-2879
    • Hajjar, K.A.1
  • 29
    • 0022472013 scopus 로고
    • Activation of endogenous Factor V by a homocysteine-induced vascular endothelial cell activator
    • Rodgers GM, Kane WH (1986) Activation of endogenous Factor V by a homocysteine-induced vascular endothelial cell activator. J Clin Invest 77:1909-1916
    • (1986) J. Clin. Invest. , vol.77 , pp. 1909-1916
    • Rodgers, G.M.1    Kane, W.H.2
  • 30
    • 0027493344 scopus 로고
    • Chemical pathology of homocysteine. I. Atherogenesis
    • McCully KS (1993) Chemical pathology of homocysteine. I. Atherogenesis. Ann Clin Lab Sci 23:477-493
    • (1993) Ann. Clin. Lab. Sci. , vol.23 , pp. 477-493
    • McCully, K.S.1
  • 31
    • 0021894152 scopus 로고
    • The natural history of homocystinuria due to cystathione B-synthase deficiency
    • Mudd SH, Skovby FL, Levy HL (1985) The natural history of homocystinuria due to cystathione B-synthase deficiency. Am J Hum Genet 37:1-31
    • (1985) Am. J. Hum. Genet. , vol.37 , pp. 1-31
    • Mudd, S.H.1    Skovby, F.L.2    Levy, H.L.3
  • 33
    • 0017361295 scopus 로고
    • Membranoproliferative glomerulonephritis with disruption of the basement membrane
    • Strife CF, McEnery T, McAdams AJ, West CD (1977) Membranoproliferative glomerulonephritis with disruption of the basement membrane. Clin Nephrol 7:65-72
    • (1977) Clin. Nephrol. , vol.7 , pp. 65-72
    • Strife, C.F.1    McEnery, T.2    McAdams, A.J.3    West, C.D.4
  • 34
    • 0023096729 scopus 로고
    • Differences between membranoproliferative glomerulonephritis types I and III in clinical presentation, glomerular morphology, and complement perturbation
    • Jackson EC, McAdams AJ, Strife F, Forristal J, Welch TR, West CD (1987) Differences between membranoproliferative glomerulonephritis types I and III in clinical presentation, glomerular morphology, and complement perturbation. Am J Kidney Dis 9:115-120
    • (1987) Am. J. Kidney Dis. , vol.9 , pp. 115-120
    • Jackson, E.C.1    McAdams, A.J.2    Strife, F.3    Forristal, J.4    Welch, T.R.5    West, C.D.6
  • 35
    • 0029849014 scopus 로고    scopus 로고
    • Discordant renal histopathologic findings and complement profiles in membranoproliferative glomerulonephritis type III
    • Meyers KEC, Strife FS, Witzleben C, Kaplan BS (1996) Discordant renal histopathologic findings and complement profiles in membranoproliferative glomerulonephritis type III. Am J Kidney Dis 28:804-810
    • (1996) Am. J. Kidney Dis. , vol.28 , pp. 804-810
    • Meyers, K.E.C.1    Strife, F.S.2    Witzleben, C.3    Kaplan, B.S.4
  • 36
    • 0025029167 scopus 로고
    • Patterns of complement activation in idiopathic membranoproliferative glomerulonephritis, types I, II, and III
    • Varade S, Forristal J, West CD (1990) Patterns of complement activation in idiopathic membranoproliferative glomerulonephritis, types I, II, and III. Am J Kidney Dis 16:196-206
    • (1990) Am. J. Kidney Dis. , vol.16 , pp. 196-206
    • Varade, S.1    Forristal, J.2    West, C.D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.