参考文献:1. Kunishima S, Saito H. Advances in the understanding of MYH9 disorders. Curr Opin Hematol. 2010;17:405鈥?0. CrossRef 2. Antonio G, Silvia V, Emanuela B, Fabrizio F. Thrombotic events in MYH9 gene-related autosomal macrothrombocytopenias (old May-Hegglin, Sebastian, Fechtner and Epstein syndromes). J Thromb Thrombolysis. 2011;32:474鈥?. CrossRef 3. Heller PG, Pecci A, Glembotsky AC, Savoia A, Negro FD, Balduini CL, et al. Unexplained recurrent venous thrombosis in a patient with MYH9-related disease. Platelets. 2006;17:274鈥?. CrossRef 4. McDunn S, Hartz W Jr, Ts鈥橝o C, Green D. Coronary thrombosis in a patient with May-Hegglin anomaly. Am J Clin Pathol. 1991;95:715鈥?. 5. Fabris F, Scandellari R, Vettore S, Scapin M, Bizzaro N, Randi ML. Intriguing outcome of JAK2V617F mutation seen in a patient with MYH9-related hereditary macrothrombocytopenia. Thromb Haemost. 2010;104:858鈥?. CrossRef 6. 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. Blood. 2010;116:5832鈥?. CrossRef 7. Selleng K, Lubenow LE, Greinacher A, Warkentin TE. Perioperative management of MYH9 hereditary macrothrombocytopenia (Fechtner syndrome). Eur J Haematol. 2007;79:263鈥?. CrossRef 8. Hao J, Kunishima S, Guo X, Hu R, Gao W. A large family with MYH9 disorder caused by E1841K mutation suffering from serious kidney and hearing impairment and cataracts. Ann Hematol. 2012;91:1147鈥?. 9. Pecci A, Panza E, Pujol-Moix N, Klersy C, Di Bari F, Bozzi V, et al. Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease. Hum Mutat. 2008;29:409鈥?7. CrossRef 10. Kunishima S, Matsushita T, Kojima T, Sako M, Kimura F, Jo EK, et al. Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations. Lab Invest. 2003;83:115鈥?2.
1. Department of Pediatrics, Teine-Keijinkai Hospital, Maeda 1 jyo 12-1-40, Teine-ku, Sapporo, 006-8555, Japan 2. Department of Advanced Diagnosis, Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya, Japan 3. Department of Internal Medicine, School of Dentistry, Health Sciences University of Hokkaido, Ishikari-Tobetsu, Japan