Tom 13, Nr 1 (2020)
Wytyczne / stanowisko ekspertów
Opublikowany online: 2020-07-23
Wyświetlenia strony
782
Wyświetlenia/pobrania artykułu
4107
Postępowanie we wrodzonych małopłytkowościach. Zalecenia Grupy ds. Hemostazy Polskiego Towarzystwa Hematologów i Transfuzjologów 2019
Journal of Transfusion Medicine 2020;13(1):1-15.
Streszczenie
Wrodzone małopłytkowości stanowią heterogenną grupę rzadko występujących skaz krwotocznych. Są one zróżnicowane pod względem stopnia małopłytkowości, wielkości płytek krwi, sposobu dziedziczenia i przebiegu klinicznego. Z powodu skomplikowanej diagnostyki i często łagodnego przebiegu klinicznego pozostają w większości przypadków nierozpoznane. W pracy przedstawiono klasyfikację oraz charakterystykę kliniczną i laboratoryjną najważniejszych wrodzonych małopłytkowości z uwzględnieniem zaleceń postępowania diagnostycznego i terapeutycznego.
Słowa kluczowe: wrodzone małopłytkowościpłytkikrwawieniadiagnostykaleczenie
Referencje
- Noris P, Pecci A. Hereditary thrombocytopenias: a growing list of disorders. Hematology Am Soc Hematol Educ Program. 2017; 2017(1): 385–399.
- Balduini CL, Pecci A, Noris P. Inherited thrombocytopenias: the evolving spectrum. Hamostaseologie. 2012; 32(4): 259–270.
- Balduini CL, Savoia A, Seri M. Inherited thrombocytopenias frequently diagnosed in adults. J Thromb Haemost. 2013; 11(6): 1006–1019.
- Melazzini F, Zaninetti C, Balduini CL. Bleeding is not the main clinical issue in many patients with inherited thrombocytopaenias. Haemophilia. 2017; 23(5): 673–681.
- Latger-Cannard V, Philippe C, Bouquet A, et al. Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders. Orphanet J Rare Dis. 2016; 11: 49.
- Noris P, Favier R, Alessi MC, et al. ANKRD26-related thrombocytopenia and myeloid malignancies. Blood. 2013; 122(11): 1987–1989.
- Melazzini F, Palombo F, Balduini A, et al. Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia. Haematologica. 2016; 101(11): 1333–1342.
- Balduini CL, Pecci A, Savoia A. Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias. Br J Haematol. 2011; 154(2): 161–174.
- Ballmaier M, Germeshausen M. Congenital amegakaryocytic thrombocytopenia: clinical presentation, diagnosis, and treatment. Semin Thromb Hemost. 2011; 37(6): 673–681.
- Savoia A. Molecular basis of inherited thrombocytopenias. Clin Genet. 2016; 89: 154–62.
- Chojnowski K, Klukowska A, Łętowska M, et al. Zasady postępowania we wrodzonych zaburzeniach czynności płytek krwi. Acta Haematol Pol. 2009; 40: 731–52.
- Noris P, Biino G, Pecci A, et al. Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders. Blood. 2014; 124(6): e4–ee10.
- Massaad MJ, Ramesh N, Geha RS. Wiskott-Aldrich syndrome: a comprehensive review. Ann N Y Acad Sci. 2013; 1285: 26–43.
- Albert MH, Bittner TC, Nonoyama S, et al. X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options. Blood. 2010; 115(16): 3231–3238.
- Toriello HV. Thrombocytopenia-absent radius syndrome. Semin Thromb Hemost. 2011; 37(6): 707–712.
- Al-Qattan MM. The Pathogenesis of Radial Ray Deficiency in Thrombocytopenia-Absent Radius (TAR) Syndrome. J Coll Physicians Surg Pak. 2016; 26(11): 912–916.
- Niihori T, Ouchi-Uchiyama M, Sasahara Y, et al. Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia. Am J Hum Genet. 2015; 97(6): 848–854.
- Favier R, Akshoomoff N, Mattson S, et al. Jacobsen syndrome: Advances in our knowledge of phenotype and genotype. Am J Med Genet C Semin Med Genet. 2015; 169(3): 239–250.
- Lacruz RS, Feske S. Diseases caused by mutations in ORAI1 and STIM1. Ann N Y Acad Sci. 2015; 1356: 45–79.
- Pecci A, Klersy C, Gresele P, et al. MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations. Hum Mutat. 2014; 35(2): 236–247.
- Rodeghiero F, Pecci A, Balduini CL. Thrombopoietin receptor agonists in hereditary thrombocytopenias. J Thromb Haemost. 2018; 16(9): 1700–1710.
- Noris P, Perrotta S, Seri M, et al. Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families. Blood. 2011; 117(24): 6673–6680.
- Liew E, Owen C. Familial myelodysplastic syndromes: a review of the literature. Haematologica. 2011; 96(10): 1536–1542.
- Stritt S, Nurden P, Turro E, et al. BRIDGE-BPD Consortium. A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss. Blood. 2016; 127(23): 2903–2914.
- Yoo EG. Sitosterolemia: a review and update of pathophysiology, clinical spectrum, diagnosis, and management. Ann Pediatr Endocrinol Metab. 2016; 21(1): 7–14.
- Millikan PD, Balamohan SM, Raskind WH, et al. Inherited thrombocytopenia due to GATA-1 mutations. Semin Thromb Hemost. 2011; 37(6): 682–689.
- Noris P, Perrotta S, Bottega R, et al. Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation). Haematologica. 2012; 97(1): 82–88.
- Kunishima S, Okuno Y, Yoshida K, et al. ACTN1 mutations cause congenital macrothrombocytopenia. Am J Hum Genet. 2013; 92(3): 431–438.
- Kunishima S, Kobayashi R, Itoh TJ, et al. Mutation of the beta1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly. Blood. 2009; 113(2): 458–461.
- Kunishima S, Kashiwagi H, Otsu M, et al. Heterozygous ITGA2B R995W mutation inducing constitutive activation of the αIIbβ3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia. Blood. 2011; 117(20): 5479–5484.
- Khoriaty R, Ozel AB, Ramdas S, et al. Genome-wide linkage analysis and whole-exome sequencing identifies an ITGA2B mutation in a family with thrombocytopenia. Br J Haematol. 2019; 186(4): 574–579.
- Marconi C, Di Buduo CA, LeVine K, et al. Loss-of-function mutations in cause a new form of inherited thrombocytopenia. Blood. 2019; 133(12): 1346–1357.
- Pecci A. Diagnosis and treatment of inherited thrombocytopenias. Clin Genet. 2016; 89: 141–53.
- Zaninetti C, Gresele P, Bertomoro A, et al. Eltrombopag for the treatment of inherited thrombocytopenias: a phase 2 clinical trial. Haematologica. 2019 [Epub ahead of print].
