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Upshaw–Schulman syndrome
Upshaw–Schulman syndrome (USS) is the recessively inherited form of thrombotic thrombocytopenic purpura (TTP), a rare and complex blood coagulation disease. USS is caused by the absence of the ADAMTS13 protease resulting in the persistence of unusually large von Willebrand factor multimers (ULVWF), causing episodes of acute thrombotic microangiopathy with disseminated multiple small vessel obstructions.〔〔() R. Sarode, N. Bandarenko, M.E. Brecher, J.E. Kiss, M.B. Marques, Z.M. Szczepiorkowski, and J.L. Winters, Thrombotic thrombocytopenic purpura, 2012 American Society for Apheresis (ASFA) consensus conference on classification, diagnosis, management, and future research, journal of Clinical Apheresis J. Clin. Apheresis. doi: 10.1002/jca.21302 29:148-167 (2014)〕 These obstructions cut off the behind lying tissue from its vital blood and oxygen supply. The presentation of an acute USS episode is variable but usually associated with thrombocytopenia, microangiopathic hemolytic anemia (MAHA) with schistocytes on the peripheral blood smear,〔() J.L. Moake, M.D.: MECAHNISMS OF DISEASE: THROMBOTIC MICROANGIOPATHIES, in the ''New England Journal of Medicine'' August 22, 2002, vol. 347, p. 589–600〕 fever and signs of ischemic organ damage in the brain, kidney and heart.
==Epidemiology==
The incidence of acute TTP in adults is around 1.7–4.5 per million and year.〔() D.R. Terell, L.A. Williams, S.K. Vesely, B. Lämmle, J.A.K. Hovinga, J.N. George, The incidence of thrombotic thrombocytopenic purpura – hemolytic uremic syndrome: all patients, idiopathic patients, and patients with severe ADAMTS-13 deficiency, journal of Thrombosis and Haemostasis July 2005 P. 1432–1436〕〔() JA. Reese, DS. Muthurajah, JA. Kremer Hovinga, SK. Vesely, DR. Terrell, JN. George, Children and adults with thrombotic thrombocytopenic purpura associated with severe, acquired Adamts13 deficiency: comparison of incidence, demographic and clinical features, - Pediatr Blood Cancer. 2013 Oct;60(10), P. 1–7〕 These cases are nearly all due to the autoimmune form of TTP, where autoantibodies inhibit ADAMTS13 activity.〔〔() J.T.B. Crawley, M.A. Scully, Thrombotic thrombocytopenic purpura: basic pathophysiology and therapeutic strategies, American Society of Hematology, 2013, P. 292–299〕 The prevalence of USS has not yet been determined but is assumed to constitute less than 5% of all acute TTP cases. The syndrome's inheritance is autosomal recessive, and is more often caused by compound heterozygous than homozygous mutations.〔() R. Schneppheim, J.A. Kremer Hovinga, T. Becker, U. Budde, D. Karpman, W. Brockhaus, I. Harchovinová, B. Korczowski, F. Oyen, S. Rittich, J. von Rosen, G.E. Tjonnfjord, J.E. Pimanda, T.F. Wienker, B. Lämmle, A common origin of the 4143insA ADAMtS13 mutation, Thrombosis and Hemostasis, July 2006. P. 3-6〕 The age of onset is variable and can be from neonatal age up to the 5th–6th decade.〔() J. E. Sadler, von Willebrand factor, ADAMTS13, and thrombotic thrombocytopenic purpura, American Society of Hematology 2008, 112:11-18〕 The risk of relapses differs between affected individuals.〔〔 Minimization of the burden of disease can be reached by early diagnosis and initiation of prophylaxis if required.〔
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