Heath KE, Campos-Barros A, Toren A, Rozenfeld-Granot G, Carlsson LE, Savige J, Denison JC, Gregory MC, White JG, Barker DF, Greinacher A, Epstein CJ, Glucksman MJ, Martignetti JA. 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;69:1033–45.
Article CAS PubMed PubMed Central Google Scholar
Ruan C, Saito K, Song KS, Yoon HJ, Kamiya T, Saito H. Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions. J Hum Genet. 2001;46:722–9.
Pecci A, Gresele P, Klersy C, Savoia A, Noris P, Fierro T, Bozzi V, Mezzasoma AM, Melazzini F, Balduini CL. Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations. Blood. 2010;116:583–7.
Zaninetti C, Barozzi S, Bozzi V, Gresele P, Balduini CL, Pecci A. Eltrombopag in preparation for surgery in patients with severe MYH9-related thrombocytopenia. Am J Hematol. 2019;94:E199–201.
Zaninetti C, Gresele P, Bertomoro A, Klersy C, De Candia E, Veneri D, Barozzi S, Fierro T, Alberelli MA, Musella V, Noris P, Fabris F, Balduini CL, Pecci A. Eltrombopag for the treatment of inherited thrombocytopenias: a phase II clinical trial. Haematologica. 2020;105:820–8.
Article CAS PubMed PubMed Central Google Scholar
Favier R, Feriel J, Favier M, Denoyelle F, Martignetti JA. First successful use of eltrombopag before surgery in a child with MYH9-related thrombocytopenia. Pediatrics. 2013;132:e793–5.
Favier R, De Carne C, Elefant E, Lapusneanu R, Gkalea V, Rigouzzo A. Eltrombopag to treat thrombocytopenia during last month of pregnancy in a woman with MYH9-related disease: a case report. A A Pract. 2018;10:10–2.
Mori A, Takeda H, Kobayashi M, Misawa T, Watanabe R, Abe S, Kumakawa K, Nishio S, Usami S, Yamasoba T. Successful cochlear implantation in a patient with Epstein syndrome during long-term follow-up. Auris Nasus Larynx. 2022;49:308–12.
Sekine T, Konno M, Sasaki S, Moritani S, Miura T, Wong WS, Nishio H, Nishiguchi T, Ohuchi MY, Tsuchiya S, Matsuyama T, Kanegane H, Ida K, Miura K, Harita Y, Hattori M, Horita S, Igarashi T, Saito H, Kunishima S. Patients with Epstein–Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease. Kidney Int. 2010;78:207–14.
Article CAS PubMed Google Scholar
Kunishima S, Saito H. Advances in the understanding of MYH9 disorders. Curr Opin Hematol. 2010;17:405–10.
Article CAS PubMed Google Scholar
GlaxoSmithKline. Promacta® (eltrombopag) tablets: US prescribing information. 2015. https://www.accessdata.fda.gov/drugsatfda_docs/label/2015/207027s000lbl.pdf. Accessed 4 Jan 2023.
Kaufman RM, Djulbegovic B, Gernsheimer T, Kleinman S, Tinmouth AT, Capocelli KE, Cipolle MD, Cohn CS, Fung MK, Grossman BJ, Mintz PD, O'Malley BA, Sesok-Pizzini DA, Shander A, Stack GE, Webert KE, Weinstein R, Welch BG, Whitman GJ, Wong EC, Tobian AA. AABB. Platelet transfusion: a clinical practice guideline from the AABB. Ann Intern Med. 2015;162:205–13.
Ogura M, Kikuchi E, Kaito H, Kamei K, Matsuoka K, Tanaka H, Kuroda T, Sekine T, Ito S. ABO-incompatible renal transplantation in Epstein syndrome. Clin Transpl. 2010;24:31–4.
Min SY, Ahn HJ, Park WS, Kim JW. Successful renal transplantation in MYH9-related disorder with severe macrothrombocytopenia: first report in Korea. Transpl Proc. 2014;46:654–6.
Hashimoto J, Hamasaki Y, Takahashi Y, Kubota M, Yanagisawa T, Itabashi Y, Muramatsu M, Kawamura T, Kumagai N, Ohwada Y, Sakai K, Shishido S. Management of patients with severe Epstein syndrome: review of four patients who received living-donor renal transplantation. Nephrology (Carlton). 2019;24:450–5.
Zhang R. Donor-specific antibodies in kidney transplant recipients. Clin J Am Soc Nephrol. 2018;13:182–92.
Article CAS PubMed Google Scholar
Gloor J, Stegall MD. Sensitized renal transplant recipients: current protocols and future directions. Nat Rev Nephrol. 2010;6:297–306.
留言 (0)