메뉴 건너뛰기




Volumn 51, Issue 3, 2010, Pages 157-162

New insights into hereditary angio-oedema: Molecular diagnosis and therapy

Author keywords

bradykinin; coagulation factor XII; genetic disease; oedema; skin

Indexed keywords

3 (6 ACETAMIDO 3 PYRIDYL) N [N [2,4 DICHLORO 3 [(2 METHYL 8 QUINOLINYL)OXYMETHYL]PHENYL] N METHYLAMINOCARBONYLMETHYL]ACRYLAMIDE; BLOOD CLOTTING FACTOR 12; BRADYKININ; BRADYKININ ANTAGONIST; BRADYKININ RECEPTOR; COMPLEMENT C1 INHIBITOR CONCENTRATE; COMPLEMENT COMPONENT C1Q; COMPLEMENT COMPONENT C1S INHIBITOR; COMPLEMENT COMPONENT C2; COMPLEMENT COMPONENT C4; COMPLEMENT INHIBITOR; DANAZOL; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; ECALLANTIDE; HISTAMINE; ICATIBANT; KALBITOR; KALLIKREIN; MEN 16132; OXANDROLONE; RECOMBINANT COMPLEMENT C1 INHIBITOR; RHUCIN; STANOZOLOL; TRANEXAMIC ACID; UNCLASSIFIED DRUG;

EID: 77955289381     PISSN: 00048380     EISSN: 14400960     Source Type: Journal    
DOI: 10.1111/j.1440-0960.2010.00649.x     Document Type: Review
Times cited : (11)

References (47)
  • 1
    • 0001024770 scopus 로고
    • Hereditary angio-neurotic edema
    • Osler W. Hereditary angio-neurotic edema. Am. J. Med. Sci. 1888 95 : 362 367.
    • (1888) Am. J. Med. Sci. , vol.95 , pp. 362-367
    • Osler, W.1
  • 2
    • 0026645882 scopus 로고
    • Hereditary and acquired C1-inhibitor deficiency: Biological and clinical characteristics in 235 patients
    • Agostoni A, Cicardi M. Hereditary and acquired C1-inhibitor deficiency: biological and clinical characteristics in 235 patients. Medicine 1992 71 : 206 215.
    • (1992) Medicine , vol.71 , pp. 206-215
    • Agostoni, A.1    Cicardi, M.2
  • 3
    • 32844469701 scopus 로고    scopus 로고
    • Hereditary angio-oedema: New findings concerning symptoms, affected organs, and course
    • Bork K, Meng G, Staubach P et al. Hereditary angio-oedema: new findings concerning symptoms, affected organs, and course. Am. J. Med. 2006 119 : 267 274.
    • (2006) Am. J. Med. , vol.119 , pp. 267-274
    • Bork, K.1    Meng, G.2    Staubach, P.3
  • 4
    • 35148881268 scopus 로고    scopus 로고
    • Trends in hospitalizations for anaphylaxis, angio-oedema, and urticaria in Australia, 1993-1994 to 2004-2005
    • Poulos LM, Waters AM, Correll PK et al. Trends in hospitalizations for anaphylaxis, angio-oedema, and urticaria in Australia, 1993-1994 to 2004-2005. J. Allergy Clin. Immunol. 2007 120 : 878 884.
    • (2007) J. Allergy Clin. Immunol. , vol.120 , pp. 878-884
    • Poulos, L.M.1    Waters, A.M.2    Correll, P.K.3
  • 5
    • 0031712910 scopus 로고    scopus 로고
    • Molecular genetics of C1 inhibitor
    • Tosi M. Molecular genetics of C1 inhibitor. Immunobiology 1998 199 : 358 365.
    • (1998) Immunobiology , vol.199 , pp. 358-365
    • Tosi, M.1
  • 7
    • 0034661804 scopus 로고    scopus 로고
    • Hereditary angio-oedema with normal C1-inhibitor activity in women
    • Bork K, Barnstedt SE, Koch P et al. Hereditary angio-oedema with normal C1-inhibitor activity in women. Lancet 2000 356 : 213 217.
    • (2000) Lancet , vol.356 , pp. 213-217
    • Bork, K.1    Barnstedt, S.E.2    Koch, P.3
  • 8
    • 33646026697 scopus 로고    scopus 로고
    • Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angio-oedema with normal C1 inhibitor
    • Dewald G, Bork K. Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angio-oedema with normal C1 inhibitor. Biochem. Biophys. Res. Commun. 2006 343 : 1286 1289.
    • (2006) Biochem. Biophys. Res. Commun. , vol.343 , pp. 1286-1289
    • Dewald, G.1    Bork, K.2
  • 9
    • 33845219794 scopus 로고    scopus 로고
    • Increased activity of coagulation factor XII (Hageman factor) causes hereditary angio-oedema type III
    • Cichon S, Martin L, Hennies HC et al. Increased activity of coagulation factor XII (Hageman factor) causes hereditary angio-oedema type III. Am. J. Hum. Genet. 2006 79 : 1098 1104.
    • (2006) Am. J. Hum. Genet. , vol.79 , pp. 1098-1104
    • Cichon, S.1    Martin, L.2    Hennies, H.C.3
  • 11
    • 0031047155 scopus 로고    scopus 로고
    • Angiotensin-converting enzyme (ACE) inhibitors and angio-oedema
    • Sabroe RA, Black AK. Angiotensin-converting enzyme (ACE) inhibitors and angio-oedema. Br. J. Dermatol. 1997 136 : 153 158.
    • (1997) Br. J. Dermatol. , vol.136 , pp. 153-158
    • Sabroe, R.A.1    Black, A.K.2
  • 12
    • 0036692501 scopus 로고    scopus 로고
    • Lupus erythematosus associated with C1 inhibitor deficiency
    • Koide M, Shirahama S, Tokura Y et al. Lupus erythematosus associated with C1 inhibitor deficiency. J. Dermatol. 2002 29 : 503 507.
    • (2002) J. Dermatol. , vol.29 , pp. 503-507
    • Koide, M.1    Shirahama, S.2    Tokura, Y.3
  • 13
    • 0030821230 scopus 로고    scopus 로고
    • Urticaria, angio-oedema, and autoimmunity
    • Zuraw BL. Urticaria, angio-oedema, and autoimmunity. Clin. Lab. Med. 1997 17 : 559 569.
    • (1997) Clin. Lab. Med. , vol.17 , pp. 559-569
    • Zuraw, B.L.1
  • 14
    • 0033367855 scopus 로고    scopus 로고
    • Helicobacter pylori infection and skin diseases
    • Wedi B, Kapp A. Helicobacter pylori infection and skin diseases. J. Physiol. Pharmacol. 1999 50 : 753 776.
    • (1999) J. Physiol. Pharmacol. , vol.50 , pp. 753-776
    • Wedi, B.1    Kapp, A.2
  • 16
    • 4444275023 scopus 로고    scopus 로고
    • Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angio-oedema
    • Kalmár L, Bors A, Farkas H et al. Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angio-oedema. Hum. Mutat. 2003 22 : 498.
    • (2003) Hum. Mutat. , vol.22 , pp. 498
    • Kalmár, L.1    Bors, A.2    Farkas, H.3
  • 17
    • 70349954772 scopus 로고    scopus 로고
    • Hereditary angio-oedema in Greek families due to novel and recurrent mutations
    • Speletas M, Boukas K, Papadopoulou-Alataki E et al. Hereditary angio-oedema in Greek families due to novel and recurrent mutations. Hum. Immunol. 2009 70 : 925 929.
    • (2009) Hum. Immunol. , vol.70 , pp. 925-929
    • Speletas, M.1    Boukas, K.2    Papadopoulou-Alataki, E.3
  • 18
    • 0034541410 scopus 로고    scopus 로고
    • Frequent de novo mutations and exon deletions in the C1 inhibitor gene of patients with angio-oedema
    • Pappalardo E, Cicardi M, Duponchel C et al. Frequent de novo mutations and exon deletions in the C1 inhibitor gene of patients with angio-oedema. J. Allergy Clin. Immunol. 2000 106 : 1147 1154.
    • (2000) J. Allergy Clin. Immunol. , vol.106 , pp. 1147-1154
    • Pappalardo, E.1    Cicardi, M.2    Duponchel, C.3
  • 19
    • 34948849184 scopus 로고    scopus 로고
    • Hereditary angio-oedema with normal C1 inhibitor gene in a family with affected women and men is associated with the p.P.Thr328Lys mutation in the F12 gene
    • Martin L, Raison-Peyron N, Nöthen MM et al. Hereditary angio-oedema with normal C1 inhibitor gene in a family with affected women and men is associated with the p.P.Thr328Lys mutation in the F12 gene. J. Allergy Clin. Immunol. 2007 120 : 975 977.
    • (2007) J. Allergy Clin. Immunol. , vol.120 , pp. 975-977
    • Martin, L.1    Raison-Peyron, N.2    Nöthen, M.M.3
  • 20
    • 85049057926 scopus 로고    scopus 로고
    • First molecular confirmation of an Australian case of type III hereditary angio-oedema
    • Bell CG, Kwan E, Nolan RC et al. First molecular confirmation of an Australian case of type III hereditary angio-oedema. Pathology 2008 40 : 82 3.
    • (2008) Pathology , vol.40 , pp. 82-3
    • Bell, C.G.1    Kwan, E.2    Nolan, R.C.3
  • 21
    • 58649103742 scopus 로고    scopus 로고
    • Missense mutation Thr309Lys in the coagulation factor XII gene in a Spanish family with hereditary angio-oedema type III
    • Prieto A, Tornero P, Rubio M et al. Missense mutation Thr309Lys in the coagulation factor XII gene in a Spanish family with hereditary angio-oedema type III. Allergy 2009 64 : 284 286.
    • (2009) Allergy , vol.64 , pp. 284-286
    • Prieto, A.1    Tornero, P.2    Rubio, M.3
  • 22
    • 69049111630 scopus 로고    scopus 로고
    • European missense mutation in the F12 gene in a British family with type III hereditary angio-oedema
    • Nagy N, Greaves MW, Tanaka A et al. European missense mutation in the F12 gene in a British family with type III hereditary angio-oedema. J. Dermatol. Sci. 2009 56 : 62 4.
    • (2009) J. Dermatol. Sci. , vol.56 , pp. 62-4
    • Nagy, N.1    Greaves, M.W.2    Tanaka, A.3
  • 23
  • 24
    • 33750526677 scopus 로고    scopus 로고
    • Novel pharmacotherapy of acute hereditary angio-oedema with bradykinin B2-receptor antagonist icatibant
    • Bas M, Bier H, Greve J et al. Novel pharmacotherapy of acute hereditary angio-oedema with bradykinin B2-receptor antagonist icatibant. Allergy 2006 61 : 1490 1492.
    • (2006) Allergy , vol.61 , pp. 1490-1492
    • Bas, M.1    Bier, H.2    Greve, J.3
  • 25
    • 38549120722 scopus 로고    scopus 로고
    • Clinical features of hereditary angioedema: Analysis of 133 cases
    • Ren HL, Zhang HY. Clinical features of hereditary angioedema: analysis of 133 cases. Zhonghua Yi Xue Za Zhi 2007 87 : 2772 2776.
    • (2007) Zhonghua Yi Xue Za Zhi , vol.87 , pp. 2772-2776
    • Ren, H.L.1    Zhang, H.Y.2
  • 26
    • 71949124734 scopus 로고    scopus 로고
    • Hereditary angio-oedema in Denmark: A nationwide survey
    • Bygum A. Hereditary angio-oedema in Denmark: a nationwide survey. Br. J. Dermatol. 2009 161 : 1153 1158.
    • (2009) Br. J. Dermatol. , vol.161 , pp. 1153-1158
    • Bygum, A.1
  • 27
    • 0036162030 scopus 로고    scopus 로고
    • A multicentre evaluation of the diagnostic efficiency of serological investigations for C1 inhibitor deficiency
    • Gompels MM, Lock RJ, Morgan JE et al. A multicentre evaluation of the diagnostic efficiency of serological investigations for C1 inhibitor deficiency. J. Clin. Pathol. 2002 55 : 145 147.
    • (2002) J. Clin. Pathol. , vol.55 , pp. 145-147
    • Gompels, M.M.1    Lock, R.J.2    Morgan, J.E.3
  • 28
    • 10444243236 scopus 로고    scopus 로고
    • Current and future therapy for hereditary angio-oedema
    • Zuraw BL. Current and future therapy for hereditary angio-oedema. Clin. Immunol. 2005 114 : 10 16.
    • (2005) Clin. Immunol. , vol.114 , pp. 10-16
    • Zuraw, B.L.1
  • 29
    • 33750494753 scopus 로고    scopus 로고
    • Novel therapies for hereditary angio-oedema
    • Zuraw BL. Novel therapies for hereditary angio-oedema. Immunol. Allergy Clin. North. Am. 2006 26 : 691 708.
    • (2006) Immunol. Allergy Clin. North. Am. , vol.26 , pp. 691-708
    • Zuraw, B.L.1
  • 30
    • 70450201071 scopus 로고    scopus 로고
    • Human c1-esterase inhibitor concentrate (berinert(r))
    • Keating GM. Human c1-esterase inhibitor concentrate (berinert(r)). BioDrugs 2009 23 : 399 406.
    • (2009) BioDrugs , vol.23 , pp. 399-406
    • Keating, G.M.1
  • 31
    • 0035851273 scopus 로고    scopus 로고
    • Hereditary angioedema: A broad review for clinicans
    • Nzeako UC, Frigas E, Tremaine WJ. Hereditary angioedema: a broad review for clinicans. Arch. Intern. Med. 2001 161 : 2417 2429.
    • (2001) Arch. Intern. Med. , vol.161 , pp. 2417-2429
    • Nzeako, U.C.1    Frigas, E.2    Tremaine, W.J.3
  • 32
    • 34447128795 scopus 로고    scopus 로고
    • Nonallergic angio-oedema: Role of bradykinin
    • Bas M, Adams V, Suvorava T et al. Nonallergic angio-oedema: role of bradykinin. Allergy 2007 62 : 842 856.
    • (2007) Allergy , vol.62 , pp. 842-856
    • Bas, M.1    Adams, V.2    Suvorava, T.3
  • 33
    • 34249801766 scopus 로고    scopus 로고
    • Treatment of acute edema attacks in hereditary angio-oedema with a bradykinin receptor-2 antagonist (Icatibant)
    • Bork K, Frank J, Grundt B et al. Treatment of acute edema attacks in hereditary angio-oedema with a bradykinin receptor-2 antagonist (Icatibant). J. Allergy Clin. Immunol. 2007 119 : 1497 1503.
    • (2007) J. Allergy Clin. Immunol. , vol.119 , pp. 1497-1503
    • Bork, K.1    Frank, J.2    Grundt, B.3
  • 34
    • 73349141707 scopus 로고    scopus 로고
    • Icatibant
    • Deeks ED. Icatibant. Drugs 2010 71 : 73 81.
    • (2010) Drugs , vol.71 , pp. 73-81
    • Deeks, E.D.1
  • 35
    • 67650723122 scopus 로고    scopus 로고
    • Novel small molecule bradykinin B2 receptor antagonists
    • Gibson C, Schnatbaum K, Pfeifer JR et al. Novel small molecule bradykinin B2 receptor antagonists. J. Med. Chem. 2009 52 : 4370 4379.
    • (2009) J. Med. Chem. , vol.52 , pp. 4370-4379
    • Gibson, C.1    Schnatbaum, K.2    Pfeifer, J.R.3
  • 36
    • 73349110107 scopus 로고    scopus 로고
    • Bradykinin receptor 2 antagonist (icatibant) for hereditary angioedema type III attacks
    • Bouillet L, Boccon-Gibod I, Ponard D et al. Bradykinin receptor 2 antagonist (icatibant) for hereditary angioedema type III attacks. Ann. Allergy Asthma Immunol. 2009 103 : 448.
    • (2009) Ann. Allergy Asthma Immunol. , vol.103 , pp. 448
    • Bouillet, L.1    Boccon-Gibod, I.2    Ponard, D.3
  • 37
    • 59449090645 scopus 로고    scopus 로고
    • Hereditary angio-oedema: New hopes for an orphan disease
    • Reshef A, Leibovich I, Goren A. Hereditary angio-oedema: new hopes for an orphan disease. Isr. Med. Assoc. J. 2008 10 : 850 855.
    • (2008) Isr. Med. Assoc. J. , vol.10 , pp. 850-855
    • Reshef, A.1    Leibovich, I.2    Goren, A.3
  • 38
    • 47949084527 scopus 로고    scopus 로고
    • Ecallantide (DX-88), a plasma kallikrein inhibitor for the treatment of hereditary angio-oedema and the prevention of blood loss in on-pump cardiothoracic surgery
    • Lehmann A. Ecallantide (DX-88), a plasma kallikrein inhibitor for the treatment of hereditary angio-oedema and the prevention of blood loss in on-pump cardiothoracic surgery. Expert Opin. Biol. Ther. 2008 8 : 1187 1199.
    • (2008) Expert Opin. Biol. Ther. , vol.8 , pp. 1187-1199
    • Lehmann, A.1
  • 39
    • 34547127401 scopus 로고    scopus 로고
    • Critical role of kallikrein in hereditary angioedema pathogenesis: A clinical trial of ecallantide, a novel kallikrein inhibitor
    • Schneider L, Lumry W, Vegh A et al. Critical role of kallikrein in hereditary angioedema pathogenesis: a clinical trial of ecallantide, a novel kallikrein inhibitor. J. Allergy Clin. Immunol. 2007 120 : 416 422.
    • (2007) J. Allergy Clin. Immunol. , vol.120 , pp. 416-422
    • Schneider, L.1    Lumry, W.2    Vegh, A.3
  • 40
    • 31944437279 scopus 로고    scopus 로고
    • Anaphylactic reaction and antibodies to DX-88 (kallikrein inhibitor) in a patient with hereditary angioedema
    • Caballero T, López-Serrano C. Anaphylactic reaction and antibodies to DX-88 (kallikrein inhibitor) in a patient with hereditary angioedema. J. Allergy Clin. Immunol. 2006 117 : 476 477.
    • (2006) J. Allergy Clin. Immunol. , vol.117 , pp. 476-477
    • Caballero, T.1    López-Serrano, C.2
  • 41
    • 38049076305 scopus 로고    scopus 로고
    • Hereditary angioedema: A current state-of-the-art review, VIII: Current status of emerging therapies
    • Bernstein JA. Hereditary angioedema: a current state-of-the-art review, VIII: current status of emerging therapies. Ann. Allergy Asthma Immunol. 2008 100 : S41 6.
    • (2008) Ann. Allergy Asthma Immunol. , vol.100 , pp. 41-6
    • Bernstein, J.A.1
  • 42
    • 66249101207 scopus 로고    scopus 로고
    • When is prophylaxis for hereditary angio-oedema necessary?
    • Craig T, Riedl M, Dykewicz MS et al. When is prophylaxis for hereditary angio-oedema necessary? Ann. Allergy Asthma Immunol. 2009 102 : 366 372.
    • (2009) Ann. Allergy Asthma Immunol. , vol.102 , pp. 366-372
    • Craig, T.1    Riedl, M.2    Dykewicz, M.S.3
  • 43
    • 0031041933 scopus 로고    scopus 로고
    • Side effects of long-term prophylaxis with attenuated androgens in hereditary angio-oedema: Comparison of treated and untreated patients
    • Cicardi M, Castelli R, Zingale LC et al. Side effects of long-term prophylaxis with attenuated androgens in hereditary angio-oedema: comparison of treated and untreated patients. J. Allergy Clin. Immunol. 1997 99 : 194 196.
    • (1997) J. Allergy Clin. Immunol. , vol.99 , pp. 194-196
    • Cicardi, M.1    Castelli, R.2    Zingale, L.C.3
  • 44
    • 20044384875 scopus 로고    scopus 로고
    • C1 inhibitor deficiency: Consensus document
    • Gompels MM, Lock RJ, Abinun M et al. C1 inhibitor deficiency: consensus document. Clin. Exp. Immunol. 2005 139 : 379 394.
    • (2005) Clin. Exp. Immunol. , vol.139 , pp. 379-394
    • Gompels, M.M.1    Lock, R.J.2    Abinun, M.3
  • 45
    • 0017077229 scopus 로고
    • Hereditary angioedema: The clinical syndrome and its management
    • Frank MM, Gelfand JA, Atkinson JP. Hereditary angioedema: the clinical syndrome and its management. Ann. Intern. Med. 1976 84 : 580 593.
    • (1976) Ann. Intern. Med. , vol.84 , pp. 580-593
    • Frank, M.M.1    Gelfand, J.A.2    Atkinson, J.P.3
  • 47
    • 20944433272 scopus 로고    scopus 로고
    • Hereditary angio-oedema in children: A management guideline
    • Boyle RJ, Nikpour M, Tang ML. Hereditary angio-oedema in children: a management guideline. Pediatr. Allergy Immunol. 2005 16 : 288 294.
    • (2005) Pediatr. Allergy Immunol. , vol.16 , pp. 288-294
    • Boyle, R.J.1    Nikpour, M.2    Tang, M.L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.