Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
권호 표지

유전성 출혈성 모세혈관 확장증 1례

A case of hereditary hemorrhagic telangiectasia

  • 이영승 (서울대학교 의과대학 소아과학교실) ;
  • 김성국 (서울대학교 의과대학 소아과학교실) ;
  • 강은경 (서울대학교 의과대학 소아과학교실) ;
  • 박준동 (서울대학교 의과대학 소아과학교실)
  • Lee, Young Seung (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Kim, Seonguk (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Kang, Eun Kyeong (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Park, June Dong (Department of Pediatrics, Seoul National University College of Medicine)
  • 투고 : 2007.08.08
  • 심사 : 2007.09.11
  • 발행 : 2007.10.15
PDF 다운로드
⟨ 이전 논문 다음 논문 ⟩

초록

유전성 출혈성 모세혈관 확장증은 피부 점막 모세혈관확장증, 동정맥기형, 가족력을 3대 증상으로 하는 상염색체 우성 유전성 질환이다. 빈번한 코피가 가장 흔한 증상이며 폐, 뇌, 간 등에 동정맥기형이 동반될 수 있다. 저자들은 빈번한 코피, 폐와 뇌동정맥기형, 가족력을 가진 유전성 출혈성 모세혈관확장증 1례를 경험하고 이를 보고하는 바이다.

Hereditary hemorrhagic telagiectasia (HHT), which is characterized by the classic triad of mucocutaneous telangiectases, arteriovenous malformations (AVMs) and inheritance, is an autosomal dominant disorder. The characteristic manifestations of HHT are all due to abnormalities of the vascular structure. This report deals with the case of a 14-year-old girl with typical features of HHT that include recurrent epistaxis, mucocutanous telangiectases, pulmonary and cerebral AVMs and a familial occurrence.

키워드

참고문헌

  1. Bideau A, Plauchu H, Brunet G, Robert J. Epidemiological investigation of Rendu-Osler disease in France: its geographical distribution and prevalence. Pupulation 1989:44:3-22
  2. Kjeldsen AD, Vase P, Green A. Hereditary haemorrhagic telangiectasia: a population-based study of prevalence and mortality in Danish patients. J Intern Med 1999;245:31-9 https://doi.org/10.1046/j.1365-2796.1999.00398.x
  3. Dakeishi M, Shioya T, Wada Y, Shindo T, Otaka K, Manabe M et al. Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan. Hum Mutat 2002;19:140-8 https://doi.org/10.1002/humu.10026
  4. Cottin V, Plauchu H, Bayle JY, Barthelet M, Revel D, Cordier JF. Pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia. Am J Respir Crit Care Med 2004;169:994-1000 https://doi.org/10.1164/rccm.200310-1441OC
  5. Guttmacher AE, Marchuk DA, White RI. Hereditary hemorrhagic telangiectasia. N Engl J Med 1995;333:918-24 https://doi.org/10.1056/NEJM199510053331407
  6. Plauchu H, de Chadarvian JP, Bideau A, Robert JM. Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population. Am J Med Genet 1989;32:291-7 https://doi.org/10.1002/ajmg.1320320302
  7. Dines DE, Arms RA, Bernatz PE, Gomes MR. Pulmonary arteriovenous fistulas. Mayo Clin Proc 1974:49:460-5
  8. Maher CO, Piepgras DG, Brown RD, Friedman JA, Pollock BE. Cerebrovascular manifestations in 321 cases of hereditary hemorrhagic telangiectasia. Stroke 2001;32:877-82 https://doi.org/10.1161/01.STR.32.4.877
  9. Kim HJ, Yoon YS, Seo JK, Moon HR, Yeon KM. Hereditary hemorrhagic telangiectasia with pulmonary arterivenous fistula. Korean J Pediatr 1984;27:390-4
  10. Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler- Weber syndrome). Am J Med Genet 2000;91:66-7 https://doi.org/10.1002/(SICI)1096-8628(20000306)91:1<66::AID-AJMG12>3.0.CO;2-P
  11. McDonald MT, Papenberg KA, Ghosh S, Glatfelter AA, Biesecker BB, Helmbold EA et al. A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34. Nat Genet 1994;6:197-204 https://doi.org/10.1038/ng0194-33
  12. Johnson DW, Berg JN, Gallione CJ, McAllister KA, Warner JP, Helmbold EA et al. A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12. Genome Res 1995;5:21-8 https://doi.org/10.1101/gr.5.1.21
  13. Cole SG, Begbie ME, Wallace GM, Shovlin CL. A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5. J Med Genet 2005:42:577-82 https://doi.org/10.1136/jmg.2004.028712
  14. McAllister KA, Grogg KM, Johnson DW, Gallione CJ, Baldwin MA, Jackson CE et al. Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet 1994;8:345-51 https://doi.org/10.1038/ng1294-345
  15. Johnson DW, Berg JN, Baldwin MA, Gallione CJ, Marondel I, Yoon SJ et al. Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet 1996;13:189-95 https://doi.org/10.1038/ng0696-189
  16. Begbie ME, Wallace GM, Shovlin CL. Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): a view from the 21st century. Postgrad Med J 2003;79:18-24 https://doi.org/10.1136/pmj.79.927.18
  17. Song JW, Kim HJ, Y oon YR, Kim YT. A Case of Hereditary Hemorrhagic Telangiectasia managed with intranasal topical estrogen. Korean J Otolaryngol 2006:49:447-50
  18. Kim SS, Y oo SY, Kim MS, Choi YS. A case of hereditary hemorrhagic telangiectasia: surgical treatment with modified septodermoplasty. Korean J Otolaryngol 1999:42:245-8
  19. Kjeldsen AD, Oxhoj H, Andersen PE, Green A, Vase P. Prevalence of pulmonary arteriovenous malformations (PAVMs) and occurrence of neurological symptoms in patients with hereditary haemorrhagic telangiectasia (HHT). J Intern Med 2000;248:255-62 https://doi.org/10.1046/j.1365-2796.2000.00725.x
  20. Haitjema T, Disch F, Overtoom TT, Westermann CJ, Lammers JW. Screening family members of patients with hereditary hemorrhagic telangiectasia. Am J Med 1995;99:519-24 https://doi.org/10.1016/S0002-9343(99)80229-0
  21. Morrell NW. Screening for pulmonary arteriovenous malformations. Am J Respir Crit Care Med 2004;169:978-9 https://doi.org/10.1164/rccm.2402026
  22. Burke CM, Safai C, Nelson DP, Raffin T A. Pulmonary arteriovenous malformations: a critical update. Am Rev Respir Dis 1986;134:334-9
  23. Kjeldsen AD, Oxhoj H, Andersen PE, Elle B, Jacobsen JP, Vase P. Pulmonary arteriovenous malformations: screening procedures and pulmonary angiography in patients with hereditary hemorrhagic telangiectasia. Chest 1999;116:432-9 https://doi.org/10.1378/chest.116.2.432
  24. Matsubara S, Mandzia JL, ter Brugge K, Willinsky RA, Faughnan ME. Angiographic and clinical characteristics of patients with cerebral arteriovenous malformations associated with hereditary hemorrhagic telangiectasia. AJNR Am J Neuroradiol 2000;21 :1016-20
  25. Kjeldsen AD, Kjeldsen J. Gastrointestinal bleeding in patients with hereditary hemorrhagic telangiectasia. Am J Gastroenterol 2000;95:415-8 https://doi.org/10.1111/j.1572-0241.2000.01792.x
  26. Garcia-Tsao G, Korzenik JR, Young L, Henderson KJ, Jain D, Byrd B et al. Liver disease in patients with hereditary hemorrhagic telangiectasia. N Engl J Med 2000;343:931-6 https://doi.org/10.1056/NEJM200009283431305