Вопросы гематологии/онкологии и иммунопатологии в педиатрии. 2018; 17: 16-22
Диагностика тромбоцитопатий у детей: корреляции исследования функциональной активности тромбоцитов с клинической картиной и результатами агрегометрии
https://doi.org/10.24287/1726-1708-2018-17-1-16-22Аннотация
Список литературы
1. Gresele P. Subcommittee on Platelet Physiology of the International Society on Thrombosis and Hemostasis. Diagnosis of inherited platelet function disorders: guidance from the SSC of the ISTH. J Thromb Haemost 2015; 13 (2): 314-22.
2. Dovlatova N. Current status and future prospects for platelet function testing in the diagnosis of inherited bleeding disorders. Br J Haematol. 2015; 170 (2): 150-61.
3. Watson S.P., Lowe G.C., Lordkipanidzé M., Morgan N.V., GAPP consortium. Genotyping and phenotyping of platelet function disorders. J Thromb Haemost 2013; 1 (Suppl 1): 351-63.
4. Born G. Aggregation of blood platelets by adenosine diphosphate and its reversal. Nature 1962; 9 (194): 927-9.
5. Boender J., Kruip M.J., Leebeek F. A diagnostic approach to mild bleeding disorders. J Thromb Haemost 2016; 14 (8): 1507-16.
6. Cattaneo M., Cerletti C., Harrison P., Hayward C.P., Kenny D., Nugent D., et al. Recommendations for the standardization of light transmission aggregometry : a consensus of the working party from the platelet physiology subcommittee of SSC/ISTH. J Thromb Haemost 2013; 11: 1183-9.
7. Harrison P., Mackie I., Mumford A., Briggs C., Liesner R., Winter M., Machin S., et al. Guidelines for the laboratory investigation of heritable disorders of platelet function. Br J Haematol 2011; 155 (1): 30-44.
8. Norman J.E., Westbury S.K., Jones M.L., Mumford A.D. How should we test for nonsevere heritable platelet function disorders? Int J Lab Hematol 2014; 36 (3): 326-33.
9. Hayward C.P., Pai M., Liu Y., Moffat K.A., Seecharan J., Webert K.E., et al. Diagnostic utility of light transmission platelet aggregometry : results from a prospective study of individuals referred for bleeding disorder assessments. JThrombHaemost 2009; 7 (4): 676-84.
10. Демина И.А., Жарков П.А., Пантелеев М.А. Использование метода функциональной активности тромбоцитов у детей с геморрагическим синдромом. Гематология и трансфузиология. Восточная Европа 2015; 1: 157-64.
11. LindenM.D. PlateletFlowCytometry. Methods Mol Biol 2013; 992: 241-62.
12. Michelson A.D. Evaluation оf рlatelet function by flow cytometry. Pathophysiol Haemost Thromb 2006; 35 (1, 2): 67-82.
13. Carubbi C., Masselli E., Gesi M., Galli D., Mirandola P., Vitale M., Gobbi G. Cytofluorimetric рlatelet аnalysis. Semin Thromb Hemost 2014; 40: 88-98.
14. Wall J.E., Buijs-Wilts M., Arnold J.T., Wang W., White M.M., Jennings L.K., Jackson C.W. A flow cytometric assay using mepacrine for study of uptake and release of platelet dense granule contents. Br J Haematol 1995; 89: 380-5.
15. Cai H., Mullier F., Frotscher B., Briquel M.E., Toussaint M., Massin F., Lecompte T., et al. Usefulness of flow cytometric mepacrine uptake / Release combined with CD63 assay in diagnosis of patients with suspected platelet dense granule disorder. Semin Thromb Hemost 2016; 42 (3): 282-91.
16. Dawood B.B., Lowe G.C., Lordkipanidzé M., Bem D., Daly M.E., Makris M., Mumford A., et al. Evaluation of participants with suspected heritable platelet function disorders including recommendation and validation of a streamlined agonist panel. Blood 2012; 120 (25): 5041-50.
17. Rodeghiero F., Tosetto A., Abshire T., Arnold D.M., Coller B., James P., et al. ISTH/SSC bleeding assessment tool : a standardized questionnaire and a proposal for a new bleeding score for inherited bleeding disorders. J Thromb Haemost 2010; 8: 2063-5.
18. Mauer A.C., Khazanov N.A., Levenkova N., Tian S., Barbour E.M., Khalida C., et al. Impact of sex, age, race, ethnicity and aspirin use on bleeding symptoms in healthy adults. J Thromb Haemost 2011; 9 (1): 100-8.
19. Elbatarny M., Mollah S., Grabell J., Bae S., Deforest M., Tuttle A., et al. Normal range of bleeding scores for the ISTH-BAT: adult and pediatric data from the merging project. Haemophil 2014; 20 (6): 831-5.
20. Lowe G.C., Lordkipanidzé M., Watson S.P. UK GAPP study group. et al. Utility of the ISTH bleeding assessment tool in predicting platelet defects in participants with suspected inherited platelet function disorders. J Thromb Haemost 2013; 11 (9): 1663-8.
Pediatric Hematology/Oncology and Immunopathology. 2018; 17: 16-22
Diagnostics of inherited functional platelet disorders (IFPD) in children: correlations between results of flow cytometry, clinical phenotype and results of light transmission aggregometry
https://doi.org/10.24287/1726-1708-2018-17-1-16-22Abstract
Inherited functional platelet disorders (IFPD) are very heterogeneous group of hemorrhagic diseases. Light transmission aggregometry (LTA) and flow cytometry of platelets are used for diagnostics of IFPD. Flow cytometry is the newer method with some advantages. Our aim was to access correlation between results of LTA and platelet flow cytometry, as well as relationship between results of flow cytometry and clinical phenotypes. Fifty children with suspicion of IFPD were included in initial retrospective analysis. Patients with thrombocytopenia were excluded. Severity of clinical phenotype was accessed by means of ISTH BAT score. Seven patients were diagnosed as having Glanzmann thrombasthenia (GT). Deficiency of δ- and/or α-granules was discovered in 13 children, deficiency of active form of integrin αIIbβ3 in 5, and its combination in 4. None of patients with granules deficiency had pathological findings in LTA results. ISTH BAT score was significantly higher in children with GT in comparison with other patients. But difference in ISTH BAT score was absent between groups with other defects and without any pathological findings in laboratory tests. Our results correspond with previously published data on low sensivity of LTA towards platelet granule disorders. Use of ISTH BAT score was unable to distinguish patients with functional platelet defects and those without any defects accordingly flow cytometry results.
References
1. Gresele P. Subcommittee on Platelet Physiology of the International Society on Thrombosis and Hemostasis. Diagnosis of inherited platelet function disorders: guidance from the SSC of the ISTH. J Thromb Haemost 2015; 13 (2): 314-22.
2. Dovlatova N. Current status and future prospects for platelet function testing in the diagnosis of inherited bleeding disorders. Br J Haematol. 2015; 170 (2): 150-61.
3. Watson S.P., Lowe G.C., Lordkipanidzé M., Morgan N.V., GAPP consortium. Genotyping and phenotyping of platelet function disorders. J Thromb Haemost 2013; 1 (Suppl 1): 351-63.
4. Born G. Aggregation of blood platelets by adenosine diphosphate and its reversal. Nature 1962; 9 (194): 927-9.
5. Boender J., Kruip M.J., Leebeek F. A diagnostic approach to mild bleeding disorders. J Thromb Haemost 2016; 14 (8): 1507-16.
6. Cattaneo M., Cerletti C., Harrison P., Hayward C.P., Kenny D., Nugent D., et al. Recommendations for the standardization of light transmission aggregometry : a consensus of the working party from the platelet physiology subcommittee of SSC/ISTH. J Thromb Haemost 2013; 11: 1183-9.
7. Harrison P., Mackie I., Mumford A., Briggs C., Liesner R., Winter M., Machin S., et al. Guidelines for the laboratory investigation of heritable disorders of platelet function. Br J Haematol 2011; 155 (1): 30-44.
8. Norman J.E., Westbury S.K., Jones M.L., Mumford A.D. How should we test for nonsevere heritable platelet function disorders? Int J Lab Hematol 2014; 36 (3): 326-33.
9. Hayward C.P., Pai M., Liu Y., Moffat K.A., Seecharan J., Webert K.E., et al. Diagnostic utility of light transmission platelet aggregometry : results from a prospective study of individuals referred for bleeding disorder assessments. JThrombHaemost 2009; 7 (4): 676-84.
10. Demina I.A., Zharkov P.A., Panteleev M.A. Ispol'zovanie metoda funktsional'noi aktivnosti trombotsitov u detei s gemorragicheskim sindromom. Gematologiya i transfuziologiya. Vostochnaya Evropa 2015; 1: 157-64.
11. LindenM.D. PlateletFlowCytometry. Methods Mol Biol 2013; 992: 241-62.
12. Michelson A.D. Evaluation of rlatelet function by flow cytometry. Pathophysiol Haemost Thromb 2006; 35 (1, 2): 67-82.
13. Carubbi C., Masselli E., Gesi M., Galli D., Mirandola P., Vitale M., Gobbi G. Cytofluorimetric rlatelet analysis. Semin Thromb Hemost 2014; 40: 88-98.
14. Wall J.E., Buijs-Wilts M., Arnold J.T., Wang W., White M.M., Jennings L.K., Jackson C.W. A flow cytometric assay using mepacrine for study of uptake and release of platelet dense granule contents. Br J Haematol 1995; 89: 380-5.
15. Cai H., Mullier F., Frotscher B., Briquel M.E., Toussaint M., Massin F., Lecompte T., et al. Usefulness of flow cytometric mepacrine uptake / Release combined with CD63 assay in diagnosis of patients with suspected platelet dense granule disorder. Semin Thromb Hemost 2016; 42 (3): 282-91.
16. Dawood B.B., Lowe G.C., Lordkipanidzé M., Bem D., Daly M.E., Makris M., Mumford A., et al. Evaluation of participants with suspected heritable platelet function disorders including recommendation and validation of a streamlined agonist panel. Blood 2012; 120 (25): 5041-50.
17. Rodeghiero F., Tosetto A., Abshire T., Arnold D.M., Coller B., James P., et al. ISTH/SSC bleeding assessment tool : a standardized questionnaire and a proposal for a new bleeding score for inherited bleeding disorders. J Thromb Haemost 2010; 8: 2063-5.
18. Mauer A.C., Khazanov N.A., Levenkova N., Tian S., Barbour E.M., Khalida C., et al. Impact of sex, age, race, ethnicity and aspirin use on bleeding symptoms in healthy adults. J Thromb Haemost 2011; 9 (1): 100-8.
19. Elbatarny M., Mollah S., Grabell J., Bae S., Deforest M., Tuttle A., et al. Normal range of bleeding scores for the ISTH-BAT: adult and pediatric data from the merging project. Haemophil 2014; 20 (6): 831-5.
20. Lowe G.C., Lordkipanidzé M., Watson S.P. UK GAPP study group. et al. Utility of the ISTH bleeding assessment tool in predicting platelet defects in participants with suspected inherited platelet function disorders. J Thromb Haemost 2013; 11 (9): 1663-8.
