메뉴 건너뛰기




Volumn 151, Issue 3, 2007, Pages 299-306

Long-Term Follow-Up in 12 Children with Pulmonary Arteriovenous Malformations: Confirmation of Hereditary Hemorrhagic Telangiectasia in all Cases

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTERIOVENOUS MALFORMATION; ARTICLE; BRAIN ABSCESS; CHILD; CLINICAL ARTICLE; DISEASE ASSOCIATION; FAMILY HISTORY; FEMALE; FOLLOW UP; GENE MUTATION; HEMOPTYSIS; HUMAN; INFANT; LUNG DISEASE; MALE; MUTATIONAL ANALYSIS; NEWBORN; POSTOPERATIVE COMPLICATION; PRIORITY JOURNAL; PULMONARY ARTERIOVENOUS MALFORMATION; RENDU OSLER WEBER DISEASE; SCREENING; SEX RATIO; TRANSIENT ISCHEMIC ATTACK;

EID: 34548140137     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2007.03.021     Document Type: Article
Times cited : (25)

References (47)
  • 1
    • 0033065276 scopus 로고    scopus 로고
    • Pulmonary arteriovenous fistulas: Mayo clinic experience, 1982-1997
    • Swanson K.L., Prakash U.B., and Stanson A.W. Pulmonary arteriovenous fistulas: Mayo clinic experience, 1982-1997. Mayo Clin Proc 74 (1999) 671-680
    • (1999) Mayo Clin Proc , vol.74 , pp. 671-680
    • Swanson, K.L.1    Prakash, U.B.2    Stanson, A.W.3
  • 2
    • 0027970430 scopus 로고
    • Life-threatening pulmonary hemorrhage with pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia
    • Ference B.A., Shannon T.M., White Jr. R.I., Zawin M., and Burdge C. Life-threatening pulmonary hemorrhage with pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia. Chest 106 (1994) 1387-1390
    • (1994) Chest , vol.106 , pp. 1387-1390
    • Ference, B.A.1    Shannon, T.M.2    White Jr., R.I.3    Zawin, M.4    Burdge, C.5
  • 3
    • 0031846341 scopus 로고    scopus 로고
    • Pulmonary arteriovenous malformations: a state-of-the-art review
    • Gossage J.R., and Kanj G. Pulmonary arteriovenous malformations: a state-of-the-art review. Am J Respir Crit Care Med 158 (1998) 643-661
    • (1998) Am J Respir Crit Care Med , vol.158 , pp. 643-661
    • Gossage, J.R.1    Kanj, G.2
  • 5
    • 0033831442 scopus 로고    scopus 로고
    • Prevalence of pulmonary arteriovenous malformations (PAVMs) and occurrence of neurological symptoms in patients with hereditary haemorrhagic telangiectasia (HHT)
    • Kjeldsen A.D., Oxhoj H., Andersen P.E., Green A., and Vase P. Prevalence of pulmonary arteriovenous malformations (PAVMs) and occurrence of neurological symptoms in patients with hereditary haemorrhagic telangiectasia (HHT). J Intern Med 248 (2000) 255-262
    • (2000) J Intern Med , vol.248 , pp. 255-262
    • Kjeldsen, A.D.1    Oxhoj, H.2    Andersen, P.E.3    Green, A.4    Vase, P.5
  • 6
    • 0026601001 scopus 로고
    • Pulmonary arteriovenous malformations: how do we diagnose them and why is it important to do so?
    • White Jr. R.I. Pulmonary arteriovenous malformations: how do we diagnose them and why is it important to do so?. Radiology 182 (1992) 633-635
    • (1992) Radiology , vol.182 , pp. 633-635
    • White Jr., R.I.1
  • 7
    • 0028246323 scopus 로고
    • Pulmonary arteriovenous malformations: diagnosis with three-dimensional helical CT. A breakthrough without contrast media
    • White Jr. R.I., and Pollak J.S. Pulmonary arteriovenous malformations: diagnosis with three-dimensional helical CT. A breakthrough without contrast media. Radiology 191 (1994) 613-614
    • (1994) Radiology , vol.191 , pp. 613-614
    • White Jr., R.I.1    Pollak, J.S.2
  • 11
    • 0032861016 scopus 로고    scopus 로고
    • Pulmonary arteriovenous fistula: presentation, diagnosis and treatment
    • Pick A., Deschamps C., and Stanson A.W. Pulmonary arteriovenous fistula: presentation, diagnosis and treatment. World J Surg 23 (1999) 1118-1122
    • (1999) World J Surg , vol.23 , pp. 1118-1122
    • Pick, A.1    Deschamps, C.2    Stanson, A.W.3
  • 12
    • 0024394433 scopus 로고
    • Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population
    • Plauchu H., de Chadarevian J.-P., Bideau A., and Robert J.-M. Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population. Am J Med Genet 32 (1989) 291-297
    • (1989) Am J Med Genet , vol.32 , pp. 291-297
    • Plauchu, H.1    de Chadarevian, J.-P.2    Bideau, A.3    Robert, J.-M.4
  • 15
    • 0028851489 scopus 로고
    • Screening family members of patients with hereditary hemorrhagic telangiectasia
    • Haitjema T., Disch F., Overtoom T.T., Westermann C.J., and Lammers J.W. Screening family members of patients with hereditary hemorrhagic telangiectasia. Am J Med 99 (1995) 519-524
    • (1995) Am J Med , vol.99 , pp. 519-524
    • Haitjema, T.1    Disch, F.2    Overtoom, T.T.3    Westermann, C.J.4    Lammers, J.W.5
  • 16
    • 0017239335 scopus 로고
    • Clinical and angiographic features of pulmonary arteriovenous fistulas of children
    • Higgins C.B., and Wexler L. Clinical and angiographic features of pulmonary arteriovenous fistulas of children. Radiology 119 (1976) 171-175
    • (1976) Radiology , vol.119 , pp. 171-175
    • Higgins, C.B.1    Wexler, L.2
  • 17
    • 0027376303 scopus 로고
    • Pulmonary arteriovenous malformation in the neonate
    • Mitchell R.O., and Austin III E.H. Pulmonary arteriovenous malformation in the neonate. J Pediatr Surg 28 (1993) 1536-1538
    • (1993) J Pediatr Surg , vol.28 , pp. 1536-1538
    • Mitchell, R.O.1    Austin III, E.H.2
  • 18
    • 0036518303 scopus 로고    scopus 로고
    • Coil embolization of a neonatal pulmonary arteriovenous malformation
    • Bennhagen R.G., Holje G., Laurin S., and Pesonen E. Coil embolization of a neonatal pulmonary arteriovenous malformation. Pediatr Cardiol 23 (2002) 235-238
    • (2002) Pediatr Cardiol , vol.23 , pp. 235-238
    • Bennhagen, R.G.1    Holje, G.2    Laurin, S.3    Pesonen, E.4
  • 19
    • 0028238273 scopus 로고
    • Transcatheter coil embolisation of a pulmonary arteriovenous malformation in a neonate
    • Grady R.M., Sharkey A.M., and Bridges N.D. Transcatheter coil embolisation of a pulmonary arteriovenous malformation in a neonate. Br Heart J 71 (1994) 370-371
    • (1994) Br Heart J , vol.71 , pp. 370-371
    • Grady, R.M.1    Sharkey, A.M.2    Bridges, N.D.3
  • 20
    • 0020602828 scopus 로고
    • Pulmonary arteriovenous malformation: an uncommon cause for cyanosis in the newborn
    • Taylor G.A. Pulmonary arteriovenous malformation: an uncommon cause for cyanosis in the newborn. Pediatr Radiol 13 (1983) 339-341
    • (1983) Pediatr Radiol , vol.13 , pp. 339-341
    • Taylor, G.A.1
  • 21
    • 0017172579 scopus 로고
    • Massive pulmonary arteriovenous fistula in the newborn
    • Clarke C.P., Goh T.H., Blackwood A., and Venables A.W. Massive pulmonary arteriovenous fistula in the newborn. Br Heart J 38 (1976) 1092-1095
    • (1976) Br Heart J , vol.38 , pp. 1092-1095
    • Clarke, C.P.1    Goh, T.H.2    Blackwood, A.3    Venables, A.W.4
  • 22
    • 0025271306 scopus 로고
    • Pulmonary arteriovenous fistula: ultrasonographic approach
    • Sommer B., Kaufmann H.J., and Kumm M. Pulmonary arteriovenous fistula: ultrasonographic approach. Pediatr Radiol 20 (1990) 353-354
    • (1990) Pediatr Radiol , vol.20 , pp. 353-354
    • Sommer, B.1    Kaufmann, H.J.2    Kumm, M.3
  • 23
    • 0025424429 scopus 로고
    • Radiological case of the month: pulmonary arteriovenous fistula associated with Rendu-Osler-Weber syndrome
    • Audenaert S.M., and Wood B.P. Radiological case of the month: pulmonary arteriovenous fistula associated with Rendu-Osler-Weber syndrome. Am J Dis Child 144 (1990) 575-576
    • (1990) Am J Dis Child , vol.144 , pp. 575-576
    • Audenaert, S.M.1    Wood, B.P.2
  • 24
    • 0033874276 scopus 로고    scopus 로고
    • Contrast transesophageal echocardiography in the diagnosis and localization of diffuse pulmonary telangiectasias
    • Oliveira G.H., Seward J.B., Cortese D.A., and Dines D.E. Contrast transesophageal echocardiography in the diagnosis and localization of diffuse pulmonary telangiectasias. Chest 118 (2000) 557-559
    • (2000) Chest , vol.118 , pp. 557-559
    • Oliveira, G.H.1    Seward, J.B.2    Cortese, D.A.3    Dines, D.E.4
  • 25
    • 0023739337 scopus 로고
    • Cyanosis due to pulmonary arteriovenous malformation
    • Meredith J.T. Cyanosis due to pulmonary arteriovenous malformation. Am Fam Physician 38 (1988) 187-191
    • (1988) Am Fam Physician , vol.38 , pp. 187-191
    • Meredith, J.T.1
  • 26
    • 9744281202 scopus 로고    scopus 로고
    • Pulmonary arteriovenous malformations in children: outcomes of transcatheter embolotherapy
    • 145fbib28
    • Faughnan M.E., Thabet A., Mei-Zahav M., Colombo M., Maclusky I., Hyland R.H., et al. Pulmonary arteriovenous malformations in children: outcomes of transcatheter embolotherapy. J Pediatr (2004) 826-831 145fbib28
    • (2004) J Pediatr , pp. 826-831
    • Faughnan, M.E.1    Thabet, A.2    Mei-Zahav, M.3    Colombo, M.4    Maclusky, I.5    Hyland, R.H.6
  • 28
    • 11144356696 scopus 로고    scopus 로고
    • Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France
    • Lesca G., Plauchu H., Coulet F., Lefebvre S., Plessis G., Odent S., et al. Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. Hum Mutat 23 (2004) 289-299
    • (2004) Hum Mutat , vol.23 , pp. 289-299
    • Lesca, G.1    Plauchu, H.2    Coulet, F.3    Lefebvre, S.4    Plessis, G.5    Odent, S.6
  • 29
    • 33745318246 scopus 로고    scopus 로고
    • Distribution of mutations in ENG and ACVRL1 genes in HHT French patients
    • Lesca G., Burnichon N., Raux G., Tosi M., Pinson S., Marion M.J., et al. Distribution of mutations in ENG and ACVRL1 genes in HHT French patients. Hum Mutat 27 (2006) 598
    • (2006) Hum Mutat , vol.27 , pp. 598
    • Lesca, G.1    Burnichon, N.2    Raux, G.3    Tosi, M.4    Pinson, S.5    Marion, M.J.6
  • 31
    • 0036829373 scopus 로고    scopus 로고
    • Neonatal pulmonary arteriovenous malformation in hereditary haemorrhagic telangiectasia
    • Koppen S.K.C., Dalinghaus M., and Westermann C.J. Neonatal pulmonary arteriovenous malformation in hereditary haemorrhagic telangiectasia. Arch Dis Child Fetal Neonatal Ed 87 (2002) F226-F227
    • (2002) Arch Dis Child Fetal Neonatal Ed , vol.87
    • Koppen, S.K.C.1    Dalinghaus, M.2    Westermann, C.J.3
  • 32
    • 33846208639 scopus 로고    scopus 로고
    • Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network
    • Lesca G., Olivieri C., Burnichon N., Pagella F., Carette M.F., Gilbert-Dussardier B., et al. Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network. Genet Med 9 (2007) 14-22
    • (2007) Genet Med , vol.9 , pp. 14-22
    • Lesca, G.1    Olivieri, C.2    Burnichon, N.3    Pagella, F.4    Carette, M.F.5    Gilbert-Dussardier, B.6
  • 33
    • 0041326362 scopus 로고    scopus 로고
    • Hereditary haemorrhagic telangiectasia: a questionnaire-based study to delineate the different phenotypes caused by endoglin and ALK1 mutations
    • Berg J., Porteous M., Reinhardt D., Gallione C., Holloway S., Umasunthar T., et al. Hereditary haemorrhagic telangiectasia: a questionnaire-based study to delineate the different phenotypes caused by endoglin and ALK1 mutations. J Med Genet 40 (2003) 585-590
    • (2003) J Med Genet , vol.40 , pp. 585-590
    • Berg, J.1    Porteous, M.2    Reinhardt, D.3    Gallione, C.4    Holloway, S.5    Umasunthar, T.6
  • 34
    • 33644870430 scopus 로고    scopus 로고
    • Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations
    • Bayrak-Toydemir P., McDonald J., Markewitz B., Lewin S., Miller F., Chou L.S., et al. Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations. Am J Med Genet 140 (2006) 463-470
    • (2006) Am J Med Genet , vol.140 , pp. 463-470
    • Bayrak-Toydemir, P.1    McDonald, J.2    Markewitz, B.3    Lewin, S.4    Miller, F.5    Chou, L.S.6
  • 36
    • 25444530657 scopus 로고    scopus 로고
    • Clinical symptoms according to genotype amongst patients with hereditary haemorrhagic telangiectasia
    • Kjeldsen A.D., Moller T.R., Brusgaard K., Vase P., and Andersen P.E. Clinical symptoms according to genotype amongst patients with hereditary haemorrhagic telangiectasia. J Intern Med 258 (2005) 349-355
    • (2005) J Intern Med , vol.258 , pp. 349-355
    • Kjeldsen, A.D.1    Moller, T.R.2    Brusgaard, K.3    Vase, P.4    Andersen, P.E.5
  • 37
    • 33644801814 scopus 로고    scopus 로고
    • Mutation analysis in hereditary haemorrhagic telangiectasia in Germany reveals 11 novel ENG and 12 novel ACVRL1/ALK1 mutations
    • Wehner L.E., Folz B.J., Argyriou L., Twelkemeyer S., Teske U., Geisthoff U.W., et al. Mutation analysis in hereditary haemorrhagic telangiectasia in Germany reveals 11 novel ENG and 12 novel ACVRL1/ALK1 mutations. Clin Genet 69 (2006) 239-245
    • (2006) Clin Genet , vol.69 , pp. 239-245
    • Wehner, L.E.1    Folz, B.J.2    Argyriou, L.3    Twelkemeyer, S.4    Teske, U.5    Geisthoff, U.W.6
  • 38
    • 0036634625 scopus 로고    scopus 로고
    • Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia
    • Olivieri C., Mira E., Delu G., Pagella F., Zambelli A., Malvezzi L., et al. Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia. J Med Genet 39 (2002) E39
    • (2002) J Med Genet , vol.39
    • Olivieri, C.1    Mira, E.2    Delu, G.3    Pagella, F.4    Zambelli, A.5    Malvezzi, L.6
  • 40
    • 0029020131 scopus 로고
    • Embolisation of pulmonary arteriovenous malformations: results and follow up in 32 patients
    • Haitjema T.J., Overtoom T.T.C., Westermann C.J.J., and Lammers J.-W.J. Embolisation of pulmonary arteriovenous malformations: results and follow up in 32 patients. Thorax 50 (1995) 719-723
    • (1995) Thorax , vol.50 , pp. 719-723
    • Haitjema, T.J.1    Overtoom, T.T.C.2    Westermann, C.J.J.3    Lammers, J.-W.J.4
  • 41
    • 0032210396 scopus 로고    scopus 로고
    • Embolotherapy for pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)
    • Andersen P.E., Kjeldsen A.D., Oxhoj H., Vase P., and White Jr. R.I. Embolotherapy for pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Acta Radiol 39 (1998) 723-726
    • (1998) Acta Radiol , vol.39 , pp. 723-726
    • Andersen, P.E.1    Kjeldsen, A.D.2    Oxhoj, H.3    Vase, P.4    White Jr., R.I.5
  • 42
    • 0028841158 scopus 로고
    • Pulmonary arteriovenous malformations: results of treatment with coil embolization in 53 patients
    • Dutton J.A.E., Jackson J.E., Huhes J.M.B., Whyte M.K.B., Peters A.M., Ussov W., et al. Pulmonary arteriovenous malformations: results of treatment with coil embolization in 53 patients. Am J Roentgenol 165 (1995) 1119-1125
    • (1995) Am J Roentgenol , vol.165 , pp. 1119-1125
    • Dutton, J.A.E.1    Jackson, J.E.2    Huhes, J.M.B.3    Whyte, M.K.B.4    Peters, A.M.5    Ussov, W.6
  • 43
    • 0032809791 scopus 로고    scopus 로고
    • Screening procedures and pulmonary angiography in patients with hereditary hemorrhagic telangiectasia
    • Kjeldsen A.D., Oxhoj H., Andersen P.E., Elle B., Jacobsen J.P., and Vase P. Screening procedures and pulmonary angiography in patients with hereditary hemorrhagic telangiectasia. Chest 116 (1999) 432-439
    • (1999) Chest , vol.116 , pp. 432-439
    • Kjeldsen, A.D.1    Oxhoj, H.2    Andersen, P.E.3    Elle, B.4    Jacobsen, J.P.5    Vase, P.6
  • 44
    • 0042130535 scopus 로고    scopus 로고
    • The prevalence and manifestations of heriditary hemorrhagic telangiectasia in the Afro-Caribbean population of the Netherlands Antilles: a family screening
    • Westermann C.J., Rosina A.F., de Vries V., and de Coteau P.A. The prevalence and manifestations of heriditary hemorrhagic telangiectasia in the Afro-Caribbean population of the Netherlands Antilles: a family screening. Am J Med Genet 116A (2003) 324-328
    • (2003) Am J Med Genet , vol.116 A , pp. 324-328
    • Westermann, C.J.1    Rosina, A.F.2    de Vries, V.3    de Coteau, P.A.4
  • 45
    • 0035139873 scopus 로고    scopus 로고
    • Estimated risks of radiation-induced fatal cancer from pediatric CT
    • Brenner D., Elliston C., Hall E., and Berdon W. Estimated risks of radiation-induced fatal cancer from pediatric CT. AJR Am J Roentgenol 176 (2001) 289-296
    • (2001) AJR Am J Roentgenol , vol.176 , pp. 289-296
    • Brenner, D.1    Elliston, C.2    Hall, E.3    Berdon, W.4
  • 46
    • 33646810085 scopus 로고    scopus 로고
    • Screening for children from families with Rendu-Osler-Weber disease: from geneticist to clinician
    • Giordano P., Nigro A., Lenato G.M., Guanti G., Suppressa P., Lastella P., et al. Screening for children from families with Rendu-Osler-Weber disease: from geneticist to clinician. J Thromb Haemost 4 (2006) 1237-1245
    • (2006) J Thromb Haemost , vol.4 , pp. 1237-1245
    • Giordano, P.1    Nigro, A.2    Lenato, G.M.3    Guanti, G.4    Suppressa, P.5    Lastella, P.6
  • 47
    • 24344507129 scopus 로고    scopus 로고
    • Cost comparison of genetic and clinical screening in families with hereditary hemorrhagic telangiectasia
    • Cohen J.H., Faughnan M.E., Letarte M., Vandezande K., Kennedy S.J., and Krahn M.D. Cost comparison of genetic and clinical screening in families with hereditary hemorrhagic telangiectasia. Am J Med Genet 137A (2005) 153-160
    • (2005) Am J Med Genet , vol.137 A , pp. 153-160
    • Cohen, J.H.1    Faughnan, M.E.2    Letarte, M.3    Vandezande, K.4    Kennedy, S.J.5    Krahn, M.D.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.