Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
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형제에서 발병한 가족성 전신 홍반 루푸스

Familial systemic lupus erythematosus in two Korean male siblings

  • 강현식 (제주대학교 의학전문대학원 소아과학교실) ;
  • 오현주 (제주대학교 의학전문대학원 소아과학교실) ;
  • 김영리 (제주대학교 의학전문대학원 진단검사의학교실) ;
  • 김재왕 (제주대학교 의학전문대학원 피부과학교실) ;
  • 신경수 (제주대학교 의과학연구소)
  • Kang, Hyun Sik (Department of Pediatrics, Cheju National University School of Medicine) ;
  • Oh, Hyun Ju (Department of Pediatrics, Cheju National University School of Medicine) ;
  • Kim, Young Ree (Department of Laboratory Medicine, Cheju National University School of Medicine) ;
  • Kim, Jae-Wang (Department of Dermatology, Cheju National University School of Medicine) ;
  • Shin, Kyung-Sue (Institute of Medical Science, Cheju National University)
  • 투고 : 2008.10.09
  • 심사 : 2008.12.05
  • 발행 : 2009.05.15
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초록

전신 홍반 루푸스는 자가 항원에 대한 자가 항체를 생성하여 염증을 일으켜 다양한 기관에 손상을 주는 자가 면역 질환이다. 발병 원인은 잘 알려져 있지 않으나, 전신 홍반 루푸스 환자의 가족 중에 전신 홍반 루푸스가 일반인보다 20배 이상 발병 위험이 높아 유전적인 요인이 관련되어 있을 것으로 생각된다. 저자들은 형제에서 발병한 가족성 전신 홍반 루푸스 증례를 경험하였고, 전신 홍반 루푸스와 연관된 조직적합 유전자인 HLA DRB1*1501과 DQB1*0602 유전자를 환아모와 형제들이 공유한 것을 발견하였기에 문헌 고찰과 함께 보고하는 바이다.

Systemic lupus erythematosus (SLE) is a multisystemic autoimmune disease characterized by the production of a wide range of autoantibodies, resulting in tissue damage. Although the susceptibility to SLE has been attributed to complex interactions between genetic and environmental factors, the influence of a genetic predisposition to SLE is supported by observations of familial aggregations. Family studies have found that siblings with an SLE-affected relative have a 20-fold higher risk of developing SLE compared with the general population. Here, we present a rare case of two male siblings with SLE. The clinical, laboratory, and histopathological findings of these individuals showed the characteristic features of SLE. Human leukocyte antigen (HLA) typing revealed that the brothers and their mother shared the common HLA haplotype of DRB1*1501 and DQB1*0602, which is significantly associated with disease susceptibility in both family-based and casecontrol studies. This report provides an opportunity to reveal the role of genetic factors in the development of SLE.

키워드

참고문헌

  1. Petty RE, Laxer RM. Systemic lupus erythematosus. In: Cassidy JT, Petty RE, Laxer RM, Lindsley CB, editors, Textbook of Pediatric Rheumatology. 5th ed. Philadelphia: Elsevier Saunders, 2005;342-91
  2. Deapen D, Escalante A. Weinrib L, Horwitz D, Bachman B, Roy-Burman P, et al. A revised estimate of twin concordance in systemic erythematosus. Arthritis Rheum 1992;35: 311-8 https://doi.org/10.1002/art.1780350310
  3. Vyse TJ, Kotzin BL. Genetic basis of systemic lupus erythematosus. Curr Opin Immunol 1996;8:843-51 https://doi.org/10.1016/S0952-7915(96)80014-8
  4. Kwak TH, Lee MW, Choi JS, Kim KH. Familial lupus erythematosus occurred in mother and son. Korean J Dermatol 1995;33:950-5
  5. Park JH, Cho DY, Kim SJ, Lee SC, Won YH, Chun IK. Familial systemic lupus erythematosus developed in two sisters. Korean J Dermatol 1997;35:1220-4
  6. Hochberg MC. The application of genetic epidemiology to systemic lupus erythematosus. J Rheumatol 1987;14:867-9
  7. Lawrence JS, Martins L, Drake G. A family survey of lupus erythematosus. J Rheumatol 1987;2:913-7
  8. Michel M, Johanet C, Meyer O, Frances C, Wittke F, Michel C, et al. Familial lupus erythematosus; Clinical and immunologic features of 125 multiplex families. Medicine 2001;80: 153-8 https://doi.org/10.1097/00005792-200105000-00001
  9. Kawasaki Y, Suzuki J, Sike T, Nozawa R, Suzuki S, Suzuki H. A boy with systemic lupus erythematosus (SLE) suggesting a familial predisposition for SLE. Pediatr Int 2001; 43:417-9 https://doi.org/10.1046/j.1442-200X.2001.01407.x
  10. Brunner HI, Freedman M, Silverman ED. Close relationship between systemic lupus erythematosus and thrombotic thrombocytopenic purpura in childhood. Arthritis Rheum 1999;42:2346-55 https://doi.org/10.1002/1529-0131(199911)42:11<2346::AID-ANR13>3.0.CO;2-X
  11. Miller MH, Urowitz MB, Gladman DD. The significance of thrombocytopenia in systemic lupus erythematosus. Arthritis Rheum 1983; 26:1181-6 https://doi.org/10.1002/art.1780261002
  12. Scofield RH, Bruner GR, Kelly JA, Kilpatrick J, Bacino D, Nath SK, Harley JB. Thrombocytopenia identifies a severe familial phenotype of systemic lupus erythematosus and reveals genetic linkages at 1q22 and 11p13. Blood 2003;101: 992-7 https://doi.org/10.1182/blood-2002-04-1003
  13. Lee SG, Cha HS, Yang YS. The association of HLA-DRB1 and DQB1 alleles and a study of anticardiolipin antibody and Anti-β2 glycoprotein I antibody in Korean SLE patients. Immune Network 2002;2:227-32
  14. Lee Hs, Chung YH, Kim TG, Kim TH, Jun JB, Jung S, et al. Independent association of HLA-DR and FC receptor polymorphisms in Korean patients with systemic lupus erythematosus. Rheumatology 2003;42:1501-7 https://doi.org/10.1093/rheumatology/keg404
  15. Graham RR, Ortmann WA, Langefeld CD, Jawaheer D, Selby SA, Rodine PR, et al. Visualizing human leukocyte antigen class II risk haplotypes in human systemic lupus erythematosus. Am J Hum Genet 2002;71:543-53 https://doi.org/10.1086/342290
  16. Graham RR, Ortmann W, Rodine P, Espe K, Langefeld C, Lange E, et al. Specific combinations of HLA-DR2 and DR3 class II haplotypes contribute graded risk for disease susceptibility and autoantibodies in human SLE. Eur J Hum Genet 2007;15:823-30 https://doi.org/10.1038/sj.ejhg.5201827
  17. Stevens AM, Tsao BP, Hahn BH, Guthrie K, Lambert NC, Porter AJ, et al. Maternal HLA class II compatibility in men with systemic lupus erythematosus. Arthritis Rheum 2005;52: 2768-73 https://doi.org/10.1002/art.21256

피인용 문헌

  1. Concurrent presentation of systemic lupus erythematosus in mother and daughter vol.10, pp.6, 2009, https://doi.org/10.4103/idoj.idoj_9_19