The Korean Journal of Medicine

  • 제84권6호
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  • Pages.873-877
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  • 2013
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  • 1738-9364(pISSN)
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  • 2289-0769(eISSN)
대한내과학회 (The Korean Association of Internal Medicine)
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강직성 척추염 환자에서 대동맥 박리를 동반한 마르팡 증후군 1예

A Case of Aortic Dissection with Marfan Syndrome and Ankylosing Spondylitis

  • 류지원 (을지대학교 의과대학 내과학교실) ;
  • 박지영 (을지대학교 의과대학 내과학교실) ;
  • 송은주 (을지대학교 의과대학 내과학교실) ;
  • 허진욱 (을지대학교 의과대학 내과학교실)
  • Ryou, Ji Won (Department of Internal Medicine, Eulji University College of Medicine) ;
  • Park, Ji Young (Department of Internal Medicine, Eulji University College of Medicine) ;
  • Song, Eun Ju (Department of Internal Medicine, Eulji University College of Medicine) ;
  • Hur, Jin-Wuk (Department of Internal Medicine, Eulji University College of Medicine)
  • 투고 : 2010.12.24
  • 심사 : 2011.03.22
  • 발행 : 2013.06.01
⟨ 이전 논문 다음 논문 ⟩

초록

A 33-year-old male presented with an acute onset of back pain and abdominal pain. He was 189.9 cm tall and had an arm span of 194 cm, and had mild pectus carinatum as well as arachnodactyly. Plain radiographs showed kyphoscoliosis of the lumbar spine, bamboo spine of the thoracic spine, and sacroiliitis of the pelvis. Abdominal computed tomography revealed debakey type 3 aortic dissection. We prescribed beta blockers to control his blood pressure. According to the modified New York criteria, we diagnosed him with HLA negative ankylosing spondylitis and initiated therapy with nabumetone and sulfasalazine. We later diagnosed Marfan syndrome based on the Ghent criteria and mutation screening at the fibrillin-1. After treatment, he has been followed up without symptoms or complications.

키워드

참고문헌

  1. Dietz HC, Cutting GR, Pyeritz RE, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991;352:337-339. https://doi.org/10.1038/352337a0
  2. Pepe G, Giusti B, Evangelisti L, et al. Fibrillin-1 (FBN1) gene frameshift mutations in Marfan patients: genotypephenotype correlation. Clin Genet 2001;59:444-450. https://doi.org/10.1034/j.1399-0004.2001.590610.x
  3. Waldmuller S, Muller M, Warnecke H, et al. Genetic testing in patients with aortic aneurysms/dissections: a novel genotype/phenotype correlation? Eur J Cardiothorac Surg 2007;31:970-975. https://doi.org/10.1016/j.ejcts.2007.02.027
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  6. Takagi H, Kato T, Matsuno Y, et al. Aortic dissection without Marfan's syndrome in ankylosing spondylitis. J Thorac Cardiovasc Surg 2004;127:600-602. https://doi.org/10.1016/j.jtcvs.2003.10.018
  7. Simkin PA. Acetabular osteitis in ankylosing spondylitis: does fibrillin figure in its pathogenesis? J Rheumatol 2001;28:2663-2666.
  8. Fietta P, Manganelli P. Is fibrillin-1 the link between ankylosing spondylitis and Marfan's syndrome? J Rheumatol 2002;29:1808.