Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
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When to suspect inherited platelet disorders and how to diagnose them

  • Park, Eun Sil (Department of Pediatrics, Institute of Health Science, Gyeongsang National University College of Medicine)
  • 투고 : 2019.10.03
  • 심사 : 2019.12.31
  • 발행 : 2020.03.15
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참고문헌

  1. Westbury SK, Turro E, Greene D, Lentaigne C, Kelly AM, Bariana TK, et al. Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders. Genome Med 2015;7:36. https://doi.org/10.1186/s13073-015-0151-5
  2. Israels SJ, El-Ekiaby M, Quiroga T, Mezzano D. Inherited disorders of platelet function and challenges to diagnosis of mucocutaneous bleeding. Haemophilia 2010;16(Suppl 5):152-9. https://doi.org/10.1111/j.1365-2516.2010.02314.x
  3. 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;13:314-22. https://doi.org/10.1111/jth.12792
  4. Lambert MP. What to do when you suspect an inherited platelet disorder. Hematology Am Soc Hematol Educ Program 2011:377-83.
  5. Lentaigne C, Freson K, Laffan MA, Turro E, Ouwehand WH; BRIDGEBPD Consortium and the ThromboGenomics Consortium. Inherited platelet disorders: toward DNA-based diagnosis. Blood 2016;127:2814-23. https://doi.org/10.1182/blood-2016-03-378588
  6. 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. Haemophilia 2014;20:831-5. https://doi.org/10.1111/hae.12503
  7. Shim YJ. Genetic classification and confirmation of inherited platelet disorders: current status in Korea. Clin Exp Pediatr 2020;63:79-87. https://doi.org/10.3345/kjp.2019.00052
  8. Zhang MY, Churpek JE, Keel SB, Walsh T, Lee MK, Loeb KR, et al. Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. Nat Genet 2015;47:180-5. https://doi.org/10.1038/ng.3177
  9. Hacein-Bey Abina S, Gaspar HB, Blondeau J, Caccavelli L, Charrier S, Buckland K, et al. Outcomes following gene therapy in patients with severe Wiskott-Aldrich syndrome. JAMA 2015;313:1550-63. https://doi.org/10.1001/jama.2015.3253
  10. Ballmaier M, Germeshausen M. Congenital amegakaryocytic thrombocytopenia: clinical presentation, diagnosis, and treatment. Semin Thromb Hemost 2011;37:673-81. https://doi.org/10.1055/s-0031-1291377