阵发性睡眠性血红蛋白尿症

Parker C, Omine M, Richards S, et al. Diagnosis and management of paroxysmal nocturnal hemoglobinuria. Blood. 2005;106:3699-3709.

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Young NS. The problem of clonality in aplastic anemia: Dr. Dameshek's riddle, restated. Blood. 1992;79:1385-1392.

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Rother R, Bell L, Hillmen P, et al. The clinical sequelae of intravascular hemolysis and extracellular plasma hemoglobin: a novel mechanism of human disease. JAMA. 2005;293:1653-1662.

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de Latour RP, Mary JY, Salanoubat C, et al. Paroxysmal nocturnal hemoglobinuria: natural history of disease subcategories. Blood. 2008;112:3099-3106.

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Socie G, Mary JY, de Gramont A, et al. Paroxysmal nocturnal haemoglobinuria: long term follow-up and prognostic factors. Lancet. 1996;348:573-577.

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Martí-Carvajal AJ, Anand V, Cardona AF, et al. Eculizumab for treating patients with paroxysmal nocturnal hemoglobinuria. Cochrane Database Syst Rev. 2014;(10):CD010340.

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1.  Rosse W. Paroxysmal nocturnal hemoglobinuria as a molecular disease. Medicine (Baltimore). 1997;76:63-93.

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2.  Parker C, Omine M, Richards S, et al. Diagnosis and management of paroxysmal nocturnal hemoglobinuria. Blood. 2005;106:3699-3709.

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3.  Takeda J, Miyata T, Kawagoe K, et al. Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria. Cell. 1993;73:703-711.

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4.  Young NS. The problem of clonality in aplastic anemia: Dr. Dameshek's riddle, restated. Blood. 1992;79:1385-1392.

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5.  Hall SE, Rosse WF. The use of monoclonal antibodies and flow cytometry in the diagnosis of paroxysmal nocturnal hemoglobinuria. Blood. 1996;87:5332-5340.

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6.  Ware RE, Heeney MM, Pickens CV, et al. A multistep model for the pathogenesis and evolution of PNH. In: Omine M, Kinoshita T, eds. Paroxysmal nocturnal hemoglobinuria and related disorders: molecular aspects of pathogenesis. Tokyo, Japan: Springer; 2003:41.

7.  Rother R, Bell L, Hillmen P, et al. The clinical sequelae of intravascular hemolysis and extracellular plasma hemoglobin: a novel mechanism of human disease. JAMA. 2005;293:1653-1662.

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8.  Clark DA, Butler SA, Braren V, et al. The kidneys in paroxysmal nocturnal hemoglobinuria. Blood. 1981;57:83-89.

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9.  Hillmen P, Lewis SM, Bessler M, et al. Natural history of paroxysmal nocturnal haemoglobinuria. New Engl J Med. 1995;333:1253-1259.

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10.  Dunn DE, Tanawattanachareon P, Boccuni P, et al. Paroxysmal nocturnal hemoglobinuria cells in patients with bone marrow failure syndromes. Ann Intern Med. 1999;131:401-408.

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11.  Tichelli A, Gratwohl A, Wursch A, et al. Late haematological complications in severe aplastic anemia. Br J Haematol. 1988;69:413-418.

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12.  Young NS, Maciejewski JP, Sloand E. The enigma of the aplastic anemia/PNH syndrome. In: Omine M, Kinoshita T, eds. Paroxysmal nocturnal hemoglobinuria and related disorders: molecular aspects of pathogenesis. Tokyo, Japan: Springer; 2003:149.

13.  de Latour RP, Mary JY, Salanoubat C, et al. Paroxysmal nocturnal hemoglobinuria: natural history of disease subcategories. Blood. 2008;112:3099-3106.

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14.  Wang SA, Pozdnyakova O, Jorgensen JL, et al. Detection of paroxysmal nocturnal hemoglobinuria clones in patients with myelodysplastic syndromes and related bone marrow diseases, with emphasis on diagnostic pitfalls and caveats. Haematologica. 2009;94:29-37.

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15.  Okamoto M, Shichishima T, Noji H, et al. High frequency of several PIG-A mutations in patients with aplastic anemia and myelodysplastic syndrome. Leukemia. 2006;20:627-634.

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16.  Nishimura J, Kanakura Y, Ware RE, et al. Clinical course and flow cytometric analysis of paroxysmal nocturnal hemoglobinuria in the United States and Japan. Medicine (Baltimore). 2004;83:193-207.

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17.  Poulou LS, Vakrinos G, Pomoni A, et al. Stroke in paroxysmal nocturnal haemoglobinuria: patterns of disease and outcome. Thromb Haemost. 2007;98:699-701.

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18.  Brodsky RA, Mukhina GL, Li S, et al. Improved detection and characterization of paroxysmal nocturnal hemoglobinuria using fluorescent aerolysin. Am J Clin Pathol. 2000;114:459-466.

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19.  Ham TH, Dingle JH. Studies on destruction of red blood cells: II: chronic hemolytic anemia with paroxysmal nocturnal hemoglobinuria: certain immunological aspects of the hemolytic mechanism with special reference to serum complement. J Clin Invest. 1939;18:657-672.

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20.  Hartmann RC, Jenkins DE. The "sugar-water" test for paroxysmal nocturnal hemoglobinuria. N Engl J Med. 1966;275:155-157.

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21.  Rosse WF, Dacie JV. Immune lysis of normal human and paroxysmal nocturnal hemoglobinuria (PNH) red blood cells: I: the sensitivity of PNH red cells to lysis by complement and specific antibody. J Clin Invest. 1966;45:736-748.

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22.  Socie G, Mary JY, de Gramont A, et al. Paroxysmal nocturnal haemoglobinuria: long term follow-up and prognostic factors. Lancet. 1996;348:573-577.

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23.  Hillmen P, Young NS, Schubert J, et al. The complement inhibitor eculizumab in paroxysmal nocturnal hemoglobinuria. N Engl J Med. 2006;355:1233-1243.

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24.  Hillmen P, Hall C, Marsh JC, et al. Effect of eculizumab on hemolysis and transfusion requirements in patients with paroxysmal nocturnal hemoglobinuria. N Engl J Med. 2004;350:552-559.

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25.  Martí-Carvajal AJ, Anand V, Cardona AF, et al. Eculizumab for treating patients with paroxysmal nocturnal hemoglobinuria. Cochrane Database Syst Rev. 2014;(10):CD010340.

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26.  Kelly RJ, Hill A, Arnold LM, et al. Long-term treatment with eculizumab in paroxysmal nocturnal hemoglobinuria: sustained efficacy and improved survival. Blood. 2011;117:6786-6792.

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27.  Hillmen P, Muus P, Röth A, et al. Long-term safety and efficacy of sustained eculizumab treatment in patients with paroxysmal nocturnal haemoglobinuria. Br J Haematol. 2013;162:62-73.

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28.  Reiss UM, Schwartz J, Sakamoto KM, et al. Efficacy and safety of eculizumab in children and adolescents with paroxysmal nocturnal hemoglobinuria. Pediatr Blood Cancer. 2014;61:1544-1550.

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29.  Danilov AV, Smith H, Craigo S, et al. Paroxysmal nocturnal hemoglobinuria (PNH) and pregnancy in the era of eculizumab. Leuk Res. 2009;33:e4-e5.

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30.  Kelly R, Arnold L, Richards S, et al. The management of pregnancy in paroxysmal nocturnal haemoglobinuria on long term eculizumab. Br J Haematol. 2010;149:446-450.

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31.  Kelly RJ, Höchsmann B, Szer J, et al. Eculizumab in pregnant patients with paroxysmal nocturnal hemoglobinuria. N Engl J Med. 2015;373:1032-1039.

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32.  Rosse WF. Treatment of paroxysmal nocturnal hemoglobinuria. Blood. 1982;60:20-23.

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33.  Hartmann RC, Jenkins DE Jr, McKee LC, et al. Paroxysmal nocturnal hemoglobinuria: clinical and laboratory studies relating to iron metabolism and therapy with androgen and iron. Medicine (Baltimore). 1966;45:331-363.

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34.  Balleari E, Gatti AM, Mareni C, et al. Recombinant human erythropoietin for long-term treatment of anemia in paroxysmal nocturnal hemoglobinuria. Haematologica. 1996;81:143-147.

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35.  Bourantas K. High-dose recombinant human erythropoietin and low-dose corticosteroids for treatment of anemia in paroxysmal nocturnal hemoglobinuria. Acta Haematol. 1994;91:62-65.

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36.  Hill A, Richards SJ, Rother RP, et al. Erythropoietin treatment during complement inhibition with eculizumab in a patient with paroxysmal nocturnal hemoglobinuria. Haematologica. 2007;92:e31-e33.

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37.  Regnier L. Erythropoietin used in renal failure complicated by paroxysmal nocturnal hemoglobinuria. ANNA J. 1989;16:512-513.

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38.  Rosse WF, Gutterman LA. The effect of iron therapy in paroxysmal nocturnal hemoglobinuria. Blood. 1970;36:559-565.

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39.  Rosse WF. Transfusion in paroxysmal nocturnal hemoglobinuria: to wash or not to wash? Transfusion. 1989;29:663-664.

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40.  Kuo GP, Brodsky RA, Kim HS. Catheter-directed thrombolysis and thrombectomy for the Budd-Chiari syndrome in paroxysmal nocturnal hemoglobinuria in three patients. J Vasc Interv Radiol. 2006;17:383-387.

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41.  Hillmen P, Muus P, Dührsen U, et al. Effect of the complement inhibitor eculizumab on thromboembolism in patients with paroxysmal nocturnal hemoglobinuria. Blood. 2007;110:4123-4128.

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42.  Hall C, Richards S, Hillmen P. Primary prophylaxis with warfarin prevents thrombosis in paroxysmal nocturnal hemoglobinuria (PNH). Blood. 2003;102:3587-3591.

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43.  te Raa GD, Ribbert LS, Snijder RJ, et al. Treatment options in massive pulmonary embolism during pregnancy; a case-report and review of literature. Thromb Res. 2009;124:1-5.

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44.  Bjorge L, Ernst P, Haram KO. Paroxysmal nocturnal hemoglobinuria in pregnancy. Acta Obstet Gynecol Scand. 2003;82:1067-1071.

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45.  Ray JG, Burows RF, Ginsberg JS, et al. Paroxysmal nocturnal hemoglobinuria and the risk of venous thrombosis: review and recommendations for management of the pregnant and nonpregnant patient. Haemostasis. 2000;30:103-117.

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46.  Young NS. Paroxysmal nocturnal hemoglobinuria; current issues in pathophysiology and treatment. Curr Hematol Rep. 2005;4:103-109.

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47.  Lee JL, Lee JH, Lee JH, et al. Allogeneic hematopoietic cell transplantation for paroxysmal nocturnal hemoglobinuria. Eur J Haematol. 2003;71:114-118.

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48.  Antin JH, Ginsburg D, Smith BR, et al. Bone marrow transplantation for paroxysmal nocturnal hemoglobinuria: eradication of the PNH clone and documentation of complete lymphohematopoietic engraftment. Blood. 1985;66:1247-1250.

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49.  Kawahara K, Witherspoon RP, Storb R. Marrow transplantation for paroxysmal nocturnal hemoglobinuria. Am J Hematol. 1992;39:283-288.

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50.  Senzolo M, Cholongitas EC, Patch D, et al. Update on the classification, assessment of prognosis and therapy of Budd-Chiari syndrome. Nat Clin Pract Gastroenterol Hepatol. 2005;2:182-190.

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51.  Ziakas PD, Poulou LS, Rokas GI, et al. Thrombosis in paroxysmal nocturnal hemoglobinuria: sites, risks, outcome: an overview. J Thromb Haemost. 2007;5:642-645.

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