Вопросы гематологии/онкологии и иммунопатологии в педиатрии. 2017; 16: 40-48
Наследственная тромбоцитопения, ассоциированная с мутацией в гене MYH9
https://doi.org/10.24287/1726-1708-2017-16-1-40-48Аннотация
Список литературы
1. Cines D.B., Bussel J.B., McMillan R.B., Zehnder J.L. Congenital and acquired thrombocytopenia. Hematology Am Soc Hematol Educ Program. 2004;(1): 390-406.
2. Bolton-Maggs P.H., Chalmers E.A., Collins P.W., Harrison P., Kitchen S., Liesner R.J. et al. A review of inherited platelet disorders with guidelines for their management on behalf of the UKHCDO. Br J Haematol. 2006;135(5):603-633.
3. Nurden A.T., Freson K., Seligsohn U. Inherited platelet disorders. Haemophilia. 2012;18(4):154-160.
4. Lambert M.P. What to do when you suspect an inherited platelet disorder. Hematology Am Soc Hematol Educ Program. 2011;2011:377-383.
5. Nurden A.T., Nurden P. Inherited disorders of platelet function: selected updates. J Thromb Haemost.2015;13(1):2-9.
6. Althaus K., Greinacher A. MYH9-related platelet disorders. Semin Thromb Hemost. 2009;35(2):189-203.
7. Pagon R.A., Adam M.P., Ardinger H.H., Wallace S.E., Amemiya A., Beanet J.H. et al., eds. Gene Reviews. Seattle (WA): University of Washington, Seattle; 2015.
8. Balduini C.L,. Pecci A., Savoia A. Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias. Br J Haematol. 2011;154(2):161-174.
9. Sirachainan N., Komwilaisak P., Kitamura K., Hongeng S., Sekine T., Kunishima S. The first two cases of MYH9 disorders in Thailand: an international collaborative study. Ann Hematol. 2015;94(4):707-709.
10. Vassallo D., Erekosima I., Kanigicherla D., O’Riordan E., Uthappa P., Chrysochou C. Myosin heavy chain-9-related disorders (MYH9-RD): a case report. Clin Kidney J. 2013;6(5):516-518.
11. Saposnik B., Binard S., Fenneteau O., Nurden A., Nurden P., Hurtaud-Roux M.F. et al. Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-related disorders. Mol Genet Genomic Med. 2014;2(4):297-312.
12. Pecci A., Canobbio I., Balduini A., Stefanini L., Cisterna B., Marseglia C. et al. Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations. Hum Mol Genet. 2005;14(21):3169-3178.
13. Heath K.E., Campos-Barros A., Toren A., Rozenfeld-Granot G., Carlsson L.E., Savige J. et al. Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. Am J Hum Genet. 2001;69(5):1033-1045.
14. Yamanouchi J., Hato T., Kunishima S., Niiya T., Nakamura H., Yasukawa M. A novel MYH9 mutation in a patient with MYH9 disorders and platelet size-specific effect of romiplostim on macrothrombocytopenia. Ann Hematol. 2015;94(9):1599-1600.
15. Yokoi S., Kunishima S., Takahashi Y., Morishita M., Kojima S. A Japanese pedigree with a p.A95V mutation in the MYH9 gene demonstrates inherited macrothrombocytopenia without Alport manifestations. Ann Hematol. 2016;95(5):831-833.
16. Wasano K., Matsunaga T., Ogawa K., Kunishima S. Late onset and high-frequency dominant hearing loss in a family with MYH9 disorder. Eur Arch Otorhinolaryngol. 2016;273(11):3547-3552.
17. Piccoli G.B.,Vigotti F.N., Balduini C.L., Pecci A. The case proteinuria and low platelet count. Kidney Int. 2012;81(9):927-928.
18. Sekine T., Konno M., Sasaki S., Moritani S., Miura T., Wong WS, et al. Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease. Kidney Int. 2010;78(2):207-214.
19. Han K.H., Lee H., Kang H.G., Moon K.C., Lee J.H., Park Y.S. et al. Renal manifestations of patients with MYH9-related disorders. Pediatr Nephrol. 2011;26(4):549-555.
20. Pertuy F., Eckly A., Weber J., Proamer F., Rinckel J.Y., Lanza F. et al. Myosin IIA is critical for organelle distribution and F-actin organization in megakaryocytes and platelets. Blood.2014;123(8):1261-1269.
21. Noris P., Biino G., Pecci A., Civaschi E., Savoia A., Seri M. et al. Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders. Blood. 2014;124(6):e4-e10.
22. Palandri G. MYH9-related thrombocytopenia and intracranial bleedings: a complex clinical/surgical management and review of the literature. Br J Haematol. 2015;170(5):729-731.
23. Pecci A., Gresele P., Klersy C., Savoia A., Noris P., Fierro T. et al. Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations. Thromb Haemost. 2012;107(6):1188-1189.
24. Favier R., Feriel J., Favier M., Denoyelle F., Martignetti J.A. First successful use of Eltrombopag before surgery in a child with MYH9-Related thrombocytopenia. Pediatrics. 2013;132(3):e793-е795.
25. Léon C., Evert K., Dombrowski F., Pertuy F., Eckly A., Laeuffer P. et al. Romiplostim administration shows reduced megakaryocyte response-capacity and increased myelofibrosis in a mouse model of MYH9-RD. Blood. 2012;119(14):3333-3341.
26. Pecci A., Verver E.J., Schlegel N., Canzi P., Boccio C.M., Platokouki H. et al. Cochlear implantation is safe and effective in patients with MYH9-related disease. Orphanet J Rare Dis. 2014;9:100.
27. Nabekura T., Nagano Y., Matsuda K., Tono T. A case of cochlear implantation in a patient with Epstein syndrome. Auris Nasus Larynx. 2015;42(2):160-162.
28. Hashimoto J., Hamasaki Y., Yanagisawa T., Sekine T., Aikawa A., Shishido S. Successful kidney transplantation in Epstein syndrome with antiplatelet antibodies and donor-specific antibodies: a case report. Transplant Proc. 2015;47(8):2541-2543.
29. Min S.Y., Ahn H.J., Park W.S., Kim J.W. Successful renal transplantation in MYH9-related disorder with severe macrothrombocytopenia: first report in Korea. Transplant Proc. 2014;46(2):654-656.
Pediatric Hematology/Oncology and Immunopathology. 2017; 16: 40-48
MYH9-related inherited thrombocytopenia
https://doi.org/10.24287/1726-1708-2017-16-1-40-48Abstract
Inherited thrombocytopenia caused by mutations in MYH9 gene, is one of the forms of inherited platelet disorders. Currently, it comprises a group of diseases previously known as: Mey–Hegglin anomaly, Epstein syndrome, Fechtner syndrome, Sebastian syndrome. These syndromes are characterized by macrothrombocytopenia, and development of non-hematological manifestations such as sensorineural hearing loss, cataract and progressive nephropathy. Finding of large forms of platelets in blood smears and specific inclusions in neutrophils in immunofluorescence staining are simple methods for early diagnosis
of this form of inherited thrombocytopenia, molecular-genetic analysis helps to detect the specific mutations. This article is described a clinical case of a 9-years old child with MYH9-related inherited thrombocytopenia, having typical clinical picture and confirmed by molecular-genetic analysis. It illustrated that the administration of agonist TPO-receptors may be effective for prevention of bleeding in this form of inherited thrombocytopenia.
References
1. Cines D.B., Bussel J.B., McMillan R.B., Zehnder J.L. Congenital and acquired thrombocytopenia. Hematology Am Soc Hematol Educ Program. 2004;(1): 390-406.
2. Bolton-Maggs P.H., Chalmers E.A., Collins P.W., Harrison P., Kitchen S., Liesner R.J. et al. A review of inherited platelet disorders with guidelines for their management on behalf of the UKHCDO. Br J Haematol. 2006;135(5):603-633.
3. Nurden A.T., Freson K., Seligsohn U. Inherited platelet disorders. Haemophilia. 2012;18(4):154-160.
4. Lambert M.P. What to do when you suspect an inherited platelet disorder. Hematology Am Soc Hematol Educ Program. 2011;2011:377-383.
5. Nurden A.T., Nurden P. Inherited disorders of platelet function: selected updates. J Thromb Haemost.2015;13(1):2-9.
6. Althaus K., Greinacher A. MYH9-related platelet disorders. Semin Thromb Hemost. 2009;35(2):189-203.
7. Pagon R.A., Adam M.P., Ardinger H.H., Wallace S.E., Amemiya A., Beanet J.H. et al., eds. Gene Reviews. Seattle (WA): University of Washington, Seattle; 2015.
8. Balduini C.L,. Pecci A., Savoia A. Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias. Br J Haematol. 2011;154(2):161-174.
9. Sirachainan N., Komwilaisak P., Kitamura K., Hongeng S., Sekine T., Kunishima S. The first two cases of MYH9 disorders in Thailand: an international collaborative study. Ann Hematol. 2015;94(4):707-709.
10. Vassallo D., Erekosima I., Kanigicherla D., O’Riordan E., Uthappa P., Chrysochou C. Myosin heavy chain-9-related disorders (MYH9-RD): a case report. Clin Kidney J. 2013;6(5):516-518.
11. Saposnik B., Binard S., Fenneteau O., Nurden A., Nurden P., Hurtaud-Roux M.F. et al. Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-related disorders. Mol Genet Genomic Med. 2014;2(4):297-312.
12. Pecci A., Canobbio I., Balduini A., Stefanini L., Cisterna B., Marseglia C. et al. Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations. Hum Mol Genet. 2005;14(21):3169-3178.
13. Heath K.E., Campos-Barros A., Toren A., Rozenfeld-Granot G., Carlsson L.E., Savige J. et al. Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. Am J Hum Genet. 2001;69(5):1033-1045.
14. Yamanouchi J., Hato T., Kunishima S., Niiya T., Nakamura H., Yasukawa M. A novel MYH9 mutation in a patient with MYH9 disorders and platelet size-specific effect of romiplostim on macrothrombocytopenia. Ann Hematol. 2015;94(9):1599-1600.
15. Yokoi S., Kunishima S., Takahashi Y., Morishita M., Kojima S. A Japanese pedigree with a p.A95V mutation in the MYH9 gene demonstrates inherited macrothrombocytopenia without Alport manifestations. Ann Hematol. 2016;95(5):831-833.
16. Wasano K., Matsunaga T., Ogawa K., Kunishima S. Late onset and high-frequency dominant hearing loss in a family with MYH9 disorder. Eur Arch Otorhinolaryngol. 2016;273(11):3547-3552.
17. Piccoli G.B.,Vigotti F.N., Balduini C.L., Pecci A. The case proteinuria and low platelet count. Kidney Int. 2012;81(9):927-928.
18. Sekine T., Konno M., Sasaki S., Moritani S., Miura T., Wong WS, et al. Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease. Kidney Int. 2010;78(2):207-214.
19. Han K.H., Lee H., Kang H.G., Moon K.C., Lee J.H., Park Y.S. et al. Renal manifestations of patients with MYH9-related disorders. Pediatr Nephrol. 2011;26(4):549-555.
20. Pertuy F., Eckly A., Weber J., Proamer F., Rinckel J.Y., Lanza F. et al. Myosin IIA is critical for organelle distribution and F-actin organization in megakaryocytes and platelets. Blood.2014;123(8):1261-1269.
21. Noris P., Biino G., Pecci A., Civaschi E., Savoia A., Seri M. et al. Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders. Blood. 2014;124(6):e4-e10.
22. Palandri G. MYH9-related thrombocytopenia and intracranial bleedings: a complex clinical/surgical management and review of the literature. Br J Haematol. 2015;170(5):729-731.
23. Pecci A., Gresele P., Klersy C., Savoia A., Noris P., Fierro T. et al. Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations. Thromb Haemost. 2012;107(6):1188-1189.
24. Favier R., Feriel J., Favier M., Denoyelle F., Martignetti J.A. First successful use of Eltrombopag before surgery in a child with MYH9-Related thrombocytopenia. Pediatrics. 2013;132(3):e793-e795.
25. Léon C., Evert K., Dombrowski F., Pertuy F., Eckly A., Laeuffer P. et al. Romiplostim administration shows reduced megakaryocyte response-capacity and increased myelofibrosis in a mouse model of MYH9-RD. Blood. 2012;119(14):3333-3341.
26. Pecci A., Verver E.J., Schlegel N., Canzi P., Boccio C.M., Platokouki H. et al. Cochlear implantation is safe and effective in patients with MYH9-related disease. Orphanet J Rare Dis. 2014;9:100.
27. Nabekura T., Nagano Y., Matsuda K., Tono T. A case of cochlear implantation in a patient with Epstein syndrome. Auris Nasus Larynx. 2015;42(2):160-162.
28. Hashimoto J., Hamasaki Y., Yanagisawa T., Sekine T., Aikawa A., Shishido S. Successful kidney transplantation in Epstein syndrome with antiplatelet antibodies and donor-specific antibodies: a case report. Transplant Proc. 2015;47(8):2541-2543.
29. Min S.Y., Ahn H.J., Park W.S., Kim J.W. Successful renal transplantation in MYH9-related disorder with severe macrothrombocytopenia: first report in Korea. Transplant Proc. 2014;46(2):654-656.
