Acta Med. 2000, 43: 3-8
https://doi.org/10.14712/18059694.2019.109
Paroxysmal Nocturnal Hemoglobinuria (Membrane Defect, Pathogenesis, Aplastic Anemia, Diagnosis)
References
1. DJ, Nafa K, Pakde Suwan K et al. Clonal populations of hematopoietic cells with paroxysmal hemoglobinuria genotype and phenotype are present in normal individuals. Proc Natl Acad Sci U.S.A. 1999; 96:5209-14.
<https://doi.org/10.1073/pnas.96.9.5209>
<PubMed>
2. C, Schubert J, Veda et al. Affected paroxysmal nocturnal haemoglobinuria T lymphocytes harbour a common defect in assembly of N-acetyl-D-glucosamine inositol phospholipid corresponding to that in class A thy-1-murine lymphoma mutants. J Biol Chem 1991; 267:25347-51.
3. M, Guardiola P, Garderet L. Bone marrow transplantation for paroxysmal nocturnal haemoglobinuria. Br J Haematol 1999; 105:366-8.
<https://doi.org/10.1111/j.1365-2141.1999.01374.x>
4. M, Fehr J. fc(III receptors) (FcR III) on granulocytes: a new specific and sensitivity test for paroxysmal nocturnal haemoglobinuria. Eur J Haematol 1991; 47:179-82.
<https://doi.org/10.1111/j.1600-0609.1991.tb01552.x>
5. M, Mason GJ, Hillmen P et al. Somatic mutations and cellular selection in paroxysmal nocturnal hemoglobinuria. Lancet 1994; 343:951-3.
<https://doi.org/10.1016/S0140-6736(94)90068-X>
6. HS, Hancke S, Rosenklint A et al. Ultrasonic demonstration of clinical and subclinical hepatic venous thrombosis in paroxysmal nocturnal haemoglobinuria. Br J Haematol 1986; 64:737-43.
<https://doi.org/10.1111/j.1365-2141.1986.tb02235.x>
7. RA, Vala MS, Barber JP et al. Resistance to apoptosis caused by PIGA gene mutation in paroxysmal nocturnal hemoglobinuria. Proc Natl Acad Sci U.S.A. 1997; 94:8756-60.
<https://doi.org/10.1073/pnas.94.16.8756>
<PubMed>
8. WH. Paroxysmal nocturnal hemoglobinuria: relation of the clinical manifestations to underlying pathogenic mechanisms. Blood 1953; 8:769-812.
9. JV, Gilpin A. Refractory anaemia (Fanconi type). Arch Dis Child 1944; 19:155-62.
<https://doi.org/10.1136/adc.19.100.155>
<PubMed>
10. JV, Israels MCG, Wilkinson JF. Paroxysmal nocturnal hemoglobinuria of the Marchiafave type. Lancet 1938; 1:479-91.
<https://doi.org/10.1016/S0140-6736(00)89566-5>
11. JV, Lewis SM. Paroxysmal nocturnal hemoglobinuria: variation in clinical severity and association with bone-marrow hypoplasia. Br J. Haematol 1961; 7:442-57.
<https://doi.org/10.1111/j.1365-2141.1961.tb00354.x>
12. JV, Mollison PL. Survival of transfused erythrocytes from a donor with nocturnal haemoglobinuria. Lancet 1949; 1:390-2.
<https://doi.org/10.1016/S0140-6736(49)90704-7>
13. G, Gihotto G, Mastella G. L’aceticolinesterase eritrocitaria. II. Rapporti con le malatie emolitiche. Acta Med Patav 1956; 16:310-35.
14. MA, Di Lorenzo PE, Mohler DN. Intestinal infarction caused by paroxysmal nocturnal hemoglobinuria. Am J Hematol 1987; 16:75-7.
15. DE, Nagakura S, Tanawattana-Charoen P et al. The PNH phenotype (GPIanchored protein-deficiency) protects hematopoietic target against lymphotoxic attack (Abstract). Blood 1997; 90(suppl 1):407a.
16. DE, Tanawattana-Charoen P, Boccuni P et al. Paroxysmal nocturnal hemoglobinuria cells in patients with bone marrow failure syndromes. Ann Intern Med 1999; 131:401-408.
<https://doi.org/10.7326/0003-4819-131-6-199909210-00002>
17. J. Eine neue Form intermitierender Hämoglobinurie (hemoglobinuria paroxysmalis nocturna). Klin Wschr 1928; 7:2045-7.
<https://doi.org/10.1007/BF01846778>
18. SE, Rosse WF. The use of monoclonal antibodies and flow cytometry in the diagnosis of paroxysmal nocturnal hemoglobinuria. Blood 1996; 87:5332-40.
19. TH. Chronic hemolytic anemia with paroxysmal nocturnal hemoglobinuria. Study of the mechanism of hemolysis in relation to acid-base equilibrium. New Engl J Med 1937; 217:915-7.
<https://doi.org/10.1056/NEJM193712022172307>
20. TH, Dingle JH. Studies on destruction of red 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; 18:657-73.
<https://doi.org/10.1172/JCI101081>
<PubMed>
21. RC, Jenkins DE, Arnold AB. Diagnostic specificity of the sucrose hemolysis test for paroxysmal nocturnal hemoglobinuria. Blood 1970; 35:462-75.
22. JW, Koscick R, Lazarus HM et al. Leukemia arising out of paroxysmal nocturnal hemoglobinuria. Leukemia Lymph. 1999; 32:401-26.
<https://doi.org/10.3109/10428199909058399>
23. P, Bessler M, Mason PJ et al. Specific defect in N-acetylglucosamine incorporation in the biosynthesis of the glycosylphosphatidylinositol anchor in cloned cell lines from patients with paroxysmal nocturnal hemoglobinuria. Proc Natl Acad Sci U.S.A. 1993; 90:5272-76.
<https://doi.org/10.1073/pnas.90.11.5272>
<PubMed>
24. P, Lewis PM, Bessler M et al. Natural history of paroxysmal nocturnal hemoglobinuria. N Engl J Med 1995; 333:1253-58.
<https://doi.org/10.1056/NEJM199511093331904>
25. MH, Frederick LR, Bernshaw NY et al. Isolation and characterization of a membrane protein from normal human erythrocytes that inhibits reactive lysis of the erythrocytes of paroxysmal nocturnal hemoglobinuria. J Clin Invest 1989; 84:7-17.
<https://doi.org/10.1172/JCI114172>
<PubMed>
26. K, Nakakuma H, Kawaguchi T. Apoptosis resistance of blood cells from patients with paroxysmal nocturnal hemoglobinuria, aplastic anemia, and myelodysplastic syndrome. Blood 1997; 90:2716-22.
27. Chrobák L, Brabec V. Paroxysmální noční hemoglobinurie. Thomayerova sbírka, SZN Praha 1965. 102 pp.
28. L, Brabec V, Wiedermann B. et al. Paroxysmale nächliche Hämoglobinurie. Bericht über 8 Fälle unter besonderer Berücksichtigung von Panzytopenie und Knochenmarkaplasie. Folia haemat (Lpz) 1964; 82:256-293.
29. L, Groh J. Paroxysmální noční hemoglobinurie. Sborník věd. prací VLA J. Ev. P. 1957; 5:135-155.
30. Chrobák L, Toušková M, Žák P et al. Paroxysmální noční hemoglobinurie (patogeneze a vztah k dřeňové aplazii). Hematol. Transfusiol. 2000; v tisku.
31. K, Witherspoon RP, Storb R. Marrow transplantation for paroxysmal nocturnal hemoglobinuria. Am J. Hematol 1992; 39:283-8.
<https://doi.org/10.1002/ajh.2830390409>
32. HJ, Schmidt RE. The PIG-anchoring defect in NK lymphocytes of PNH patients. Blood 1990; 76:1181-7.
33. AI, Hertmann RC. Annotation: The Budd-Chiari syndrome and paroxysmal nocturnal haemoglobinuria. Br J Haematol 1981; 48:1-6.
<https://doi.org/10.1111/j.1365-2141.1981.00001.x>
34. H. Possible paroxysmal nocturnal hemoglobinuria with pronounced pancytopenia, reticulocytopenia, and without hemoglobinuria simulating aplastic anemia. Blood 1952; 7:842-49.
35. SM, Dacie JV. Neutrophil (leukocyte) alkaline phosphatase in paroxysmal nocturnal hemoglobinuria. Br J Haematol 1965; 11:549-56.
<https://doi.org/10.1111/j.1365-2141.1965.tb00099.x>
36. SM, Szur L, Dacie JV. The pattern of erythrocyte destruction in haemolytic anaemia as studied with radioactive chromium. Br J Haematol 1960; 6:122-39.
<https://doi.org/10.1111/j.1365-2141.1960.tb06224.x>
37. Luzzatto L. Paroxysmal nocturnal haemoglobinuria. Haematology 1996; Panache Design Singapore, p. 120-7.
38. L, Bessler M. The dual pathogenesis of paroxysmal nocturnal hemoglobinuria. Current Opinion Hematol 1996; 3:101-3.
<https://doi.org/10.1097/00062752-199603020-00001>
39. L, Bessler M, Rotoli B. Somatic mutation in paroxysmal nocturnal hemoglobinuria: A blessing in disguise? Cell 1997; 80:1-4.
<https://doi.org/10.1016/S0092-8674(00)81850-4>
40. E. Anemia emolitica con emosiderinuria perpetua. Policlinico, Sez Med 1928; 35:105-17.
41. J. The Marchiafava-Micheli syndrome (Paroxysmal nocturnal haemoglobinuria). Quart J Med 1949; 18:105-21.
42. MF, Hillmen P, Jackson J et al. Tissue plasminogen activator for hepatic vein thrombosis in paroxysmal nocturnal haemoglobinuria. J Intern Med 1994; 235:85-9.
<https://doi.org/10.1111/j.1365-2796.1994.tb01037.x>
43. S, Morgan BP, Davies A et al. Human protectin (CD 59), an 18.000-20.000 MW complement lysis restricting factor, inhibits C 5b-8 catalysed insertion of C9 into lipid bilayers. Immunulogy 1990; 7:1-9.
44. T, Takeda J, Iida Y et al. The cloning of PIG-A, a component in the early step of GPI-achor biosynthesis. Science 1993; 259:1318-20.
<https://doi.org/10.1126/science.7680492>
45. Y, Kinoshita T, Maeda Y. et al. Different roles of glycosylphosphatidylinositol in various hematopoietic cells as revealed by a mouse model of paroxysmal nocturnal hemoglobinuria. Blood 1999; 94:2963-70.
46. JI, Takahashi M, Fuse I et al. Paroxysmal nocturnal hemoglobinuria with myelofibrosis: progression to acute myeloblastic leukemia. Leukemia Lymph 1993; 92:137-42.
<https://doi.org/10.3109/10428199309059582>
47. K, Bessler M, Castro-Malaspina H et al. The spectrum of somatic mutation in the PIG-A gene in paroxysmal nocturnal hemoglobinuria includes large deletions and small duplications. Blood Cells Mol Dis 1998; 24:370-84.
<https://doi.org/10.1006/bcmd.1998.0203>
48. K, Mason PJ, Hillman P et al. Mutations in the PIG-A gene causing Paroxysmal Nocturnal Hemoglobinuria are mainly of the frameshift type. Blood 1995; 86:4650-5.
49. H, Nagakura S, Horikawa K et al. Interleukin-2-dependent T-cell lines established from paroxysmal nocturnal hemoglobinuria patients. Blood 1994; 84:309-14.
50. H, Nagakura S, Iwamoto N et al. Paroxysmal nocturnal hemoglobinuria clone in bone marrow of patients with pancytopenia. Blood 1995; 85:1371-6.
51. A, March JP, Rosenfeld SJ et al. Affected erythrocytes of patients with paroxysmal nocturnal hemoglobinuria are deficient in the complement regulatory protein, decay accelerating factor. Proc Natl Acad Sci U.S.A. 1983; 80:5430-3.
<https://doi.org/10.1073/pnas.80.16.5066>
<PubMed>
52. SB, Osunkoya BO, Luzzatto L. Paroxysmal nocturnal hemoglobinuria: evidence for monoclonal origin of abnormal red cells. Blood 1970; 36:145-52.
53. M, Plesner T, Roune E et al. The receptor for urokinase-type plasminogen activator is deficient on peripheral blood leukocytes in patients with paroxysmal nocturnal hemoglobinuria. Blood 1992; 79:1447-55.
54. AC, Rollinson SJ, Richards S. The PNH phenotype cells that emerge in most patients after CAMPATH-1H therapy are present prior to treatment. Br J Haematol 1999; 107:148-53.
<https://doi.org/10.1046/j.1365-2141.1999.01676.x>
55. WF. Phosphatidylinositol-linked proteins and paroxysmal nocturnal hemoglobinuria. Blood 1990; 75:1595-1601.
56. WJ, Dacie JV. Immune lysis of normal human and paroxysmal nocturnal haemoglobinuria (PNH) red blood cells: I. The sensitivity of PNH red cells to lysis by complement and specific antibody. J Clin Invest 1966; 45:736-48.
<https://doi.org/10.1172/JCI105388>
<PubMed>
57. WF, Ware RE. The molecular basis of paroxysmal nocturnal hemoglobinuria. Blood 1995; 86:3277-86.
58. B, Bessler M, Afinito F, del Vecchio L. Membrane proteins in paroxysmal nocturnal haemoglobinuria. Blood Reviews 1993; 7:75.
<https://doi.org/10.1016/S0268-960X(05)80017-7>
59. B, Luzzatto L. Paroxysmal nocturnal hemoglobinuria. Semin. Hematol 1989; 26:201.
60. B, Robledo R, Scarpato N et al. Two populations of erythroid cell progenitors in paroxysmal nocturnal haemoglobinuria. Blood 1984; 64:847-51.
61. R, Marsh J, Čevreska L et al. Bone marrow transplants for paroxysmal nocturnal hemoglobinuria. Br J Haematol 1999; 104:392-6.
<https://doi.org/10.1046/j.1365-2141.1999.01195.x>
62. T, Terasawa T, Hashimoto C et al. Discordant and hetorogenous expression of GPI-anchored membrane proteins on leukemic cells in a patient with paroxysmal nocturnal hemoglobinuria. Blood 1993; 81:1855-62.
63. T, Terasawa T, Saitoh Y et al. Diagnosis of paroxysmal nocturnal haemoglobinuria by phenotypic analysis of erythrocytes using two-colour cytometry with monoclonal antibodies to DAF and CD 59/MACIF. Br J Haematol 1993; 85:378-86.
<https://doi.org/10.1111/j.1365-2141.1993.tb03182.x>
64. J, Uchiechowski P, Delany P et al. The PIG-anchoring defect in NK lymphocytes of PNH patients. Blood 1990; 76:1181-7.
65. AA, Nagarajan S, Weinberg JB et al. PIG-A, DAF and protooncogene expression in paroxysmal nocturnal haemoglobinuria - associated acute myelogenous leukaemia blasts. Br J Haematol 1995; 89:72-8.
<https://doi.org/10.1111/j.1365-2141.1995.tb08908.x>
66. P. Paroxysmale Hämoglobinurie. Dtsch Med Wschr 1882; 8:1-3.
<https://doi.org/10.1055/s-0029-1196307>
67. J, Miyata T, Kawagoe K et al. Deficiency of the PIG-A gene in paroxysmal nocturnal haemoglobinuria. Cell 1993; 73:703-11.
<https://doi.org/10.1016/0092-8674(93)90250-T>
68. G, Dominguez C, Rosti V et al. Increased sensitivity to complement and decreased red blood cell life span in mice mosaic for a non-functional Piga gene. Blood 1999; 94:2945-54.
69. A, Gratwohl A, Nissen C et al. Late haematological complications in severe aplastic anaemia. Br J Haematol 1988; 69:413-18.
<https://doi.org/10.1111/j.1365-2141.1988.tb02382.x>
70. M. Paroxysmale Nachthämoglobinurie. Folia haemat (Lpz) 1955; 73:284-300.
71. HAA. Ictère hémolytigue avec crises hémoglobinurigues. Fragilité globulaire. Rev Méd 1911; 31:63-9.
72. CE, Huizinga TW, Van’t Veer-Korthof ET et al. Deficiency of glycosyl-phosphatidyl-inositol-linked membrane proteins of leukocytes in paroxysmal nocturnal hemoglobinuria. Description of a new diagnostic cytofluorometric assay. Blood 1990; 76:1853-9.
73. Voswinckel P. Der schwarze Urine Berlin, Germany Blackwell, 1993. Panache Design Singapore, p. 120-7.
74. T, Hall SE, Ortel TL et al. Complement induced vesiculation and exposure of membrane prothrombinase sites in platelets of paroxysmal nocturnal hemoglobinuria. Blood 1993; 82:1192-6.
75. M, Ueda E, Kinoshita T et al. Inherited complete deficiency of 20-kilodalton homologous restriction factor (CD 59) as a cause of paroxysmal nocturnal hemoglobinuria. N Engl J Med 1990; 323:1184-1189.
<https://doi.org/10.1056/NEJM199010253231707>
76. NS, Barret AJ. The treatment of acquired aplastic anemia. Blood 1995; 85:3367-77.
