Тромбоцитопатии
https://doi.org/10.17650/2311-1267-2015-1-54-60
Аннотация
Статья посвящена общим вопросам классификации и дифференциальной диагностики тромбоцитопатий. Освещены особенности патогенеза, течения и диагностики некоторых редких наследственных тромбоцитопатий. Особое внимание уделено молекулярным основам формирования данных заболеваний. Приведены основные генетические мутации, ассоциированные с рядом тромбоцитопатий.
Об авторах
Ирина Андреевна Дёмина
ФГБУ «Федеральный научно-клинический центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева» Минздрава России
Россия
Россия, 117198, Москва, ул. Саморы Машела, 1
Россия
Россия, 117198, Москва, ул. Саморы Машела, 1
М. А. Кумскова
ФГБУ «Федеральный научно-клинический центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева» Минздрава России
Россия
Россия, 117198, Москва, ул. Саморы Машела, 1
Россия
Россия, 117198, Москва, ул. Саморы Машела, 1
М. А. Пантелеев
ФГБУ «Федеральный научно-клинический центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева» Минздрава России;
ФГБУ «Гематологический научный центр» Минздрава России;
Центр теоретических проблем физико-химической фармакологии РАН;
ФГБОУ ВПО «Московский государственный университет им. М.В. Ломоносова»
Россия
Россия
Россия, 117198, Москва, ул. Саморы Машела, 1;
Россия, 125167, Москва, Новый Зыковский проезд, 4а;
Россия, 119991, Москва, Ленинский просп., 38А, корп. 1;
Россия, 119234, Москва, ул. Ленинские Горы, 1, стр. 8
Список литературы
1. Thon J.N., Italiano J.E. Platelets: production, morphology and ultrastructure. Handb Exp Pharmacol 2012;210:3–22.
2. Bolton-Maggs P.H., Chalmers E.A., Collins P.W. et al. A review of inherited platelet disorders with guidelines for their management on behalf of the UKHCDO. Br J Haematol 2006;135:603–33.
3. Salles I.I., Feys H.B., Iserbyt B.F. et al. Inherited traits affecting platelet function. Blood Rev 2008;22:155–72.
4. Nurden A.T., Nurden P. Congenital platelet disorders and understanding of platelet function. Br J Haematol 2014;165:165–78.
5. Nurden A.T., Fiore M., Nurden P. et al. Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models. Blood 2011;118:5996–6005.
6. Nurden A.T., Pillois X., Nurden P. Understanding the genetic basis of Glanzmann thrombasthenia: Implications for treatment. Exp Rev Hematol 2012;5:487–503.
7. George J.N., Caen J.P., Nurden A.T. Glanzmann, s thrombasthenia: The spectrum of clinical disease. Blood 1990;75:1383–95.
8. Cong N.V., Uzan G., Gross M.S. et al. Assignment of human platelet GP2B (GPIIb) gene to chromosome 17, region q21.1–q21.3. Hum Genet 1988;80:389–92.
9. Coller B.S., Shattil S.J. The GPIIb/IIIa (integrin αIIbβ3) odyssey: a technologydriven saga of a receptor with twists and turns and even a bend. Blood 2008;112:3011–25.
10. Thornton M.A., Poncz M., Korotishevsky M. et al. The human platelet αIIb gene is not closely linked to its integrin partner β3. Blood 1999;94:2039–47.
11. Shattil S.J. Signaling through platelet integrin alpha IIb beta 3: inside-out, outsidein, and sideway. Thromb Haemost 1999;82:318–25.
12. Еmambokus N.R., Frampton J. The glycoprotein IIb molecule is expressed on early murine hematopoietic progenitors and regulates their numbers in sites of hematopoiesis. Immunity 2003;19:33–45.
13. Arnaout M.A., Mahalingam B., Xiong J.P. Integrin structure, allostery, and bidirectional signalling. Annu Rev Cell Biol 2005;21:381–41.
14. Calvete J.J. On the structure and function of platelet integrin alpha IIb beta 3, the fibrinogen receptor. Proc Soc Exp Biol Med 1995;208:346–60.
15. Mitchell W.B., Li J.H., French D.L. et al. AlphaIIbbeta3 biogenesis is controlled by engagement of alphaIIb in the calnexin cycle via the N15-linked glycan. Blood 2006;107:2713–9.
16. Wilcox D.A., Wautier J.L., Pidard D. et al. A single amino acid substitution flanking the fourth calcium binding domain of alphaIIb prevents maturation of the alphaIIbbeta3 integrin complex. J Biol Chem 1994;269:4450–7.
17. Nelson E.J., Li J., Mitchell W.B. et al. Three novel betapropeller mutations causing Glanzmann thrombasthenia result in production of normally stable pro-alphaIIb but variably impaired progression of proalphaIIbbeta3 from endoplasmic reticulum to Golgi. J Thromb Haemost 2005;3:2773–83.
18. Gonzalez-Manchon C., Arias-Salgado E.G., Butta N. et al. A novel homozygous splice junction mutation in GPIIb associated with alternative splicing, nonsense-mediated decay of GPIIbmRNA, and type II Glanzmann, s thrombasthenia. J Thromb Haemost 2003;1:1071–8.
19. Mansour W., Einav Y., Hauschner H. et al. An αIIb mutation in patients with Glanzmann thrombasthenia located in the N-terminus of blade 1 of the betapropeller (Asn2Asp) disrupts a calcium binding site in blade 6. J Thromb Haemost 2011;9:192–200.
20. Raccuglia G. Grey platelet syndrome: a variety of qualitative platelet disorder. Am J Med 1971;51:818–28.
21. Gerrard J.M., Phillips D.R., Rao G.H. et al. Biochemical studies of two patients with the grey platelet syndrome. J Clin Invest 1980;66:102–9.
22. Levy-Toledano S., Caen J.P., Breton-Gorius J. et al. Gray platelet syndrome: alpha-granule deficiency. Its influence on platelet function. J Lab Clin Med 1981;98:831–48.
23. Nurden A.T., Kunicki T.J., Dupuis G. et al. Specific protein and glycoprotein deficiencies in platelets isolated from two patients with the grey platelet syndrome. Blood 1982;59:709–18.
24. Maynard D.M., Heijnen H.F., Gahl W.A. et al. The alpha granule proteome: novel proteins in normal and ghost granules in gray platelet syndrome. J Thromb Haemost 2010;8:1786–96.
25. White J.G. Ultrastructural studies of the gray platelet syndrome. Am J Pathol 1979;95:445–62.
26. Nurden A.T., Nurden P. The gray platelet syndrome: clinical spectrum of the disease. Blood Rev 2007;21:21–36.
27. Nurden A.T., Nurden P. Inherited defects of platelet function. Rev Clin Exp Hematol 2001;5:314–34.
28. Gunay-Aygun M., Zivony-Elboum Y., Gumruket F. et al. Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p. Blood 2010;116:4990–5001.
29. Tubman V.N., Levine J.E., Campagnaet D.R. et al. X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation. Blood 2007;109:3297–9.
30. Monteferrario D., Bolar N.A., Marnethet A.E. et al. A dominant-negative GFI1B mutation in the gray platelet syndrome. N Engl J Med 2014; 370:245–53.
31. Albers C.A., Cvejic A., Favier R. et al. Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. Nat Genet 2011;43:735–7.
32. Andrews R.K., Berndt M.C. Bernard – Soulier syndrome: an update. Semin Thromb Hemost 2013;39:656–62.
33. Buchbinder D., Nugent D.J., Fillipovich A.H. Wiskott–Aldrich syndrome: diagnosis, current management, and emerging treatments. Appl Clin Genet 2014;7:55–66.
34. Zhang S., Zhou X., Liu S. et al. MYH9-related disease: description of a large Chinese pedigree and a survey of reported mutations. Acta Haematol 2014;132:193–8.
35. Nurden A.T. Qualitative disorders of platelets and megakaryocytes. J Thromb Haemost 2005;3:1773–82.
36. Zwaal R.F., Comfurius P., Bevers E.M. Scott syndrome, a bleeding disorder caused by defective scrambling of membrane phospholipids. Biochim Biophys Acta 2004;1636:119–28.
Рецензия
Для цитирования:
Дёмина И.А., Кумскова М.А., Пантелеев М.А. Тромбоцитопатии. Российский журнал детской гематологии и онкологии (РЖДГиО). 2015;2(1):54-60. https://doi.org/10.17650/2311-1267-2015-1-54-60
For citation:
Demina I.A., Kumskova M.A., Panteleev M.A. Thrombocytopathy. Russian Journal of Pediatric Hematology and Oncology. 2015;2(1):54-60. (In Russ.) https://doi.org/10.17650/2311-1267-2015-1-54-60
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