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지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2011.1
- 수록면
- 530 - 534 (5page)
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We investigated ADAMTS13 activity as well as the ADAMTS13 gene mutation in children with hemolytic uremic syndrome (HUS). Eighteen patients, including 6 diarrhea-negative (D-HUS) and 12 diarrhea-associated HUS (D+HUS) patients, were evaluated. The extent of von Willebrand factor (VWF) degradation was assayed by multimer analysis, and all exons of the ADAMTS13 gene were PCR-amplified using Taq DNA polymerase. The median and range for plasma activity of ADAMTS13in 6 D-HUS and 12 D+HUS patients were 71.8% (22.8-94.1%) and 84.9% (37.9-119.9%), respectively, which were not statistically significantly different from the control group (86.4%, 34.2-112.3%) (p>0.05). Five ADAMTS13 gene mutations, including 2 novel mutations [1584+2T>A, 3941C>T (S1314L)] and 3 polymorphisms (Q448E, P475S, S903L), were found in 2 D-HUS and one D+HUS patients, which were not associated with deficiency of ADAMTS13 activity. Whether these mutations without reduced ADAMTS13 activity are innocent bystanders or predisposing factors in HUS remains unanswered.
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참고문헌 (24)
참고문헌 신청
Caprioli J / 2006 / Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome / Blood 108 : 1267 ~ 1279
Desch K / 2007 / Is there a shared pathophysiology for thrombotic thrombocytopenic purpura and hemolytic-uremic syndrome / J Am Soc Nephrol 18 : 2457 ~ 2460
Dong JF / 2007 / Struc
Furlan M / 1998 / von Willebrand factor-cleaving protease in thrombotic thrombocytopenic purpura and the hemolytic-uremic syndrome / N Engl J Med 339 : 1578 ~ 1584
Furlan M / 1999 / Recovery and half-life of von Willebrand factor-cleaving protease after plasma therapy in patients with thrombotic thrombocytopenic purpura / Thromb Haemos
Desch K / 2007 / Is there a shared pathophysiology for thrombotic thrombocytopenic purpura and hemolytic-uremic syndrome / J Am Soc Nephrol 18 : 2457 ~ 2460
Dong JF / 2007 / Struc
Furlan M / 1998 / von Willebrand factor-cleaving protease in thrombotic thrombocytopenic purpura and the hemolytic-uremic syndrome / N Engl J Med 339 : 1578 ~ 1584
Furlan M / 1999 / Recovery and half-life of von Willebrand factor-cleaving protease after plasma therapy in patients with thrombotic thrombocytopenic purpura / Thromb Haemos
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