Olgu Sunumu: Ağır Trombositopenili Bir Bebekte De Novo p.Val1316Met Mutasyonuna Bağlı Von Willebrand Hastalığı Tip 2B Tanısı

Kaynakça (8)

1. Mikhail S, Aldin ES, Streiff M, Zeidan A. An update on type 2B von Willebrand disease. Expert Rev Hematol 2014;7:217-231
2. Nurden P, Debili N, Vainchenker W, Bobe R, Bredoux R, Corvazier E, Combrie R, Fressinaud E, Meyer D, Nurden AT, Enouf J. Impaired megakaryocytopoiesis in type 2B von Willebrand disease with severe thrombocytopenia. Blood 2006;108:2587-2595
3. Goodeve A. Diagnosing von Willebrand disease: genetic analysis. Hematology Am Soc Hematol Educ Program 2016;2016:678-682
4. Federici AB, Mannucci PM, Castaman G, Baronciani L, Bucciarelli P, Canciani MT, Pecci A, Lenting PJ, De Groot PG. Clinical and molecular predictors of thrombocytopenia and risk of bleeding in patients with von Willebrand disease type 2B: a cohort study of 67 patients. Blood 2009;113:526-534
5. Castaman G, Federici AB. Type 2B von Willebrand disease: a matter of plasma plus platelet abnormality. Semin Thromb Hemost 2016;42:478-482
6. Kruse-Jarres R. How I treat type 2B von Willebrand disease. Blood 7. Holmberg L, Nilsson IM, Borge L, Gunnarsson M, Sjorin E. Platelet aggregation induced by 1-desamino-8-D-arginine vasopressin (DDAVP) in Type IIB von Willebrand’s disease. N Engl J Med 1983;309:816-821
7. Proud L, Ritchey AK. Management of type 2b von Willebrand disease in the neonatal period. Pediatr Blood Cancer 2017;64:103-105
8. Bussel J. Diagnosis and management of the fetus and neonate with alloimmune thrombocytopenia. J Thromb Haemost 2009;7(Suppl 1):253- 257.