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Volumn 53, Issue 20, 2014, Pages 2359-2363

Pulmonary arterial hypertension as the first manifestation in a patient with hereditary hemorrhagic telangiectasia

Author keywords

Activin receptor like kinase 1 (ACVRL1); ALK1; Epistaxis; Hereditary hemorrhagic telangiectasia (HHT); Pulmonary arterial hypertension (PAH)

Indexed keywords

ACTIVIN RECEPTOR LIKE KINASE 1; ACTIVIN RECEPTOR 2; ACVRL1 PROTEIN, HUMAN;

EID: 84907990657     PISSN: 09182918     EISSN: 13497235     Source Type: Journal    
DOI: 10.2169/internalmedicine.53.2850     Document Type: Article
Times cited : (10)

References (20)
  • 1
    • 0032799731 scopus 로고    scopus 로고
    • Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: Issues in clinical management and review of pathogenic mechanisms
    • Shovlin CL, Letarte M. Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms. Thorax 54: 714-729, 1999.
    • (1999) Thorax , vol.54 , pp. 714-729
    • Shovlin, C.L.1    Letarte, M.2
  • 2
    • 0034007163 scopus 로고    scopus 로고
    • Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)
    • Shovlin CL, Guttmacher AE, Buscarini E, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet 91: 66-67, 2000.
    • (2000) Am J Med Genet , vol.91 , pp. 66-67
    • Shovlin, C.L.1    Guttmacher, A.E.2    Buscarini, E.3
  • 3
    • 34447633917 scopus 로고    scopus 로고
    • Pulmonary vascular manifestations of hereditary hemorrhagic telangiectasia (renduosler disease)
    • Cottin V, Dupuis-Girod S, Lesca G, et al. Pulmonary vascular manifestations of hereditary hemorrhagic telangiectasia (renduosler disease). Respiration 74: 361-378, 2007.
    • (2007) Respiration , vol.74 , pp. 361-378
    • Cottin, V.1    Dupuis-Girod, S.2    Lesca, G.3
  • 4
    • 77953067153 scopus 로고    scopus 로고
    • Clinical outcomes of pulmonary arterial hypertension in patients carrying an ACVRL1 (ALK 1) mutation
    • Girerd B, Montani D, Coulet F, et al. Clinical outcomes of pulmonary arterial hypertension in patients carrying an ACVRL1 (ALK 1) mutation. Am J Respir Crit Care Med 181: 851-861, 2010.
    • (2010) Am J Respir Crit Care Med , vol.181 , pp. 851-861
    • Girerd, B.1    Montani, D.2    Coulet, F.3
  • 5
    • 12144286738 scopus 로고    scopus 로고
    • A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4)
    • Gallione CJ, Repetto GM, Legius E, et al. A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet 363: 852-859, 2004.
    • (2004) Lancet , vol.363 , pp. 852-859
    • Gallione, C.J.1    Repetto, G.M.2    Legius, E.3
  • 6
    • 0036164129 scopus 로고    scopus 로고
    • Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan
    • Dakeishi M, Shioya T, Wada Y, et al. Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan. Hum Mutat 19: 140-148, 2002.
    • (2002) Hum Mutat , vol.19 , pp. 140-148
    • Dakeishi, M.1    Shioya, T.2    Wada, Y.3
  • 7
    • 84893268952 scopus 로고    scopus 로고
    • Hereditary hemorrhagic telangiectasia in Japanese patients
    • Komiyama M, Ishiguro T, Yamada O, et al. Hereditary hemorrhagic telangiectasia in Japanese patients. J Hum Genet 59: 37-41, 2014.
    • (2014) J Hum Genet , vol.59 , pp. 37-41
    • Komiyama, M.1    Ishiguro, T.2    Yamada, O.3
  • 8
    • 0038648784 scopus 로고    scopus 로고
    • Pulmonary hypertension in the setting of acquired systemic arteriovenous fistulas
    • Bhatia S, Morrison JF, Bower TC, et al. Pulmonary hypertension in the setting of acquired systemic arteriovenous fistulas. Mayo Clin Proc 78: 908-912, 2003.
    • (2003) Mayo Clin Proc , vol.78 , pp. 908-912
    • Bhatia, S.1    Morrison, J.F.2    Bower, T.C.3
  • 9
    • 0034727052 scopus 로고    scopus 로고
    • Liver disease in patients with hereditary hemorrhagic telangiectasia
    • Garcia-Tsao G, Korzenik JR, Young L, et al. Liver disease in patients with hereditary hemorrhagic telangiectasia. N Engl J Med 343: 931-936, 2000.
    • (2000) N Engl J Med , vol.343 , pp. 931-936
    • Garcia-Tsao, G.1    Korzenik, J.R.2    Young, L.3
  • 10
    • 9144219585 scopus 로고    scopus 로고
    • Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia
    • Harrison RE, Flanagan JA, Sankelo M, et al. Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. J Med Genet 40: 865-871, 2003.
    • (2003) J Med Genet , vol.40 , pp. 865-871
    • Harrison, R.E.1    Flanagan, J.A.2    Sankelo, M.3
  • 11
    • 1542504799 scopus 로고    scopus 로고
    • Primary pulmonary hypertension in families with hereditary haemorrhagic telangiectasia
    • Abdalla SA, Gallione CJ, Barst RJ, et al. Primary pulmonary hypertension in families with hereditary haemorrhagic telangiectasia. Eur Respir J 23: 373-377, 2004.
    • (2004) Eur Respir J , vol.23 , pp. 373-377
    • Abdalla, S.A.1    Gallione, C.J.2    Barst, R.J.3
  • 12
    • 33144462810 scopus 로고    scopus 로고
    • Hereditary haemorrhagic telangiectasia: Current views on genetics and mechanisms of disease
    • Abdalla SA, Letarte M. Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease. J Med Genet 43: 97-110, 2006.
    • (2006) J Med Genet , vol.43 , pp. 97-110
    • Abdalla, S.A.1    Letarte, M.2
  • 13
    • 0035797556 scopus 로고    scopus 로고
    • Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia
    • Trembath RC, Thomson JR, Machado RD, et al. Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. N Engl J Med 345: 325- 334, 2001.
    • (2001) N Engl J Med , vol.345 , pp. 325-334
    • Trembath, R.C.1    Thomson, J.R.2    McHado, R.D.3
  • 14
    • 67649199928 scopus 로고    scopus 로고
    • Hereditary haemorrhagic telangiectasia: A clinical and scientific review
    • Govani FS, Shovlin CL. Hereditary haemorrhagic telangiectasia: a clinical and scientific review. Eur J Hum Genet 17: 860-871, 2009.
    • (2009) Eur J Hum Genet , vol.17 , pp. 860-871
    • Govani, F.S.1    Shovlin, C.L.2
  • 15
    • 33749246730 scopus 로고    scopus 로고
    • Mutations of TGFbeta signaling molecules in human disease
    • Harradine KA, Akhurst RJ. Mutations of TGFbeta signaling molecules in human disease. Ann Med 38: 403-414, 2006.
    • (2006) Ann Med , vol.38 , pp. 403-414
    • Harradine, K.A.1    Akhurst, R.J.2
  • 16
    • 84908000899 scopus 로고    scopus 로고
    • The University of Utah
    • HHT Mutation Database [Internet]. The University of Utah; 2013. Available from: http://www.hhtmutation.org
    • (2013) HHT Mutation Database [Internet].
  • 17
    • 39849084288 scopus 로고    scopus 로고
    • Implications of mutations of activin receptor-like kinase 1 gene (ALK1) in addition to bone morphogenetic protein receptor II gene (BMPR2) in children with pulmonary arterial hypertension
    • Fujiwara M, Yagi H, Matsuoka R, et al. Implications of mutations of activin receptor-like kinase 1 gene (ALK1) in addition to bone morphogenetic protein receptor II gene (BMPR2) in children with pulmonary arterial hypertension. Circ J 72: 127-133, 2008.
    • (2008) Circ J , vol.72 , pp. 127-133
    • Fujiwara, M.1    Yagi, H.2    Matsuoka, R.3
  • 18
    • 33847396490 scopus 로고    scopus 로고
    • Genes and pulmonary arterial hypertension
    • Sztrymf B, Yaïci A, Girerd B, et al. Genes and pulmonary arterial hypertension. Respiration 74: 123-132, 2007.
    • (2007) Respiration , vol.74 , pp. 123-132
    • Sztrymf, B.1    Yaïci, A.2    Girerd, B.3
  • 19
    • 13444309082 scopus 로고    scopus 로고
    • Investigation of second genetic hits at the BMPR2 locus as a modulator of disease progression in familial pulmonary arterial hypertension
    • Machado RD, James V, Southwood M, et al. Investigation of second genetic hits at the BMPR2 locus as a modulator of disease progression in familial pulmonary arterial hypertension. Circulation 111: 607-613, 2005.
    • (2005) Circulation , vol.111 , pp. 607-613
    • McHado, R.D.1    James, V.2    Southwood, M.3
  • 20
    • 0028577146 scopus 로고
    • Genetic heterogeneity in hereditary haemorrhagic telangiectasia
    • Porteous ME, Curtis A, Williams O, et al. Genetic heterogeneity in hereditary haemorrhagic telangiectasia. J Med Genet 31: 925- 926, 1994.
    • (1994) J Med Genet , vol.31 , pp. 925-926
    • Porteous, M.E.1    Curtis, A.2    Williams, O.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.