Congenital amegakaryocytic thrombocytopenia in a 12 year old boy with no signs of pancytopenia: Molecular analysis;Trombocitopenia congénita amegacariocítica en un niño de 12 años sin pancitopenia acompañante: Análisis molecular

Anales de Pediatria

Volumn 68, Issue 4, 2008, Pages 353-356

  Bastida Eizaguirre, M ^a   Pereda Vicandi, A ^a   Pujana Zaldegui, I ^a  

^a HOSPITAL TXAGORRITXU   (Spain)

Author keywords

Congenital amegakaryocytic thrombocytopenia; MPL; Pancytopenia; Thrombopoietin

Indexed keywords

AMEGAKARYOCYTIC THROMBOCYTOPENIA; ARTICLE; BONE MARROW BIOPSY; CASE REPORT; CHROMOSOME ANALYSIS; ECCHYMOSIS; GENE MUTATION; HEMATOMA; HUMAN; HUMAN TISSUE; MALE; SCHOOL CHILD; THROMBOCYTE COUNT; THROMBOCYTOPENIA;

EID: 42149121404     PISSN: 16954033     EISSN: 16959531     Source Type: Journal    
DOI: 10.1157/13117713     Document Type: Article

References (16)

1. Alter BP. Inherited bone marrow failure syndromes. In: Nathan DG, Orkin SH, Look AT, Ginsburg D, editors. Nathan and Oski's Hematology of infancy and Childhood. Philadelphia: WB Saunders; 2003. p. 280-365.
2. D'Andrea AD. The constitutional pancytopenias. In: Elsevier Science, editors. Nelson Textbook of Pediatrics 17 th ed. Philadelphia: WB Saunders; 2004. p. 1642.
3. Germeshausen M, Ballmaier M, Welte K. Implications of mutations in hematopoietic growth receptor genes in congenital cytopenias. Ann N Y Acad Sci. 2001;938:305-20.
4. Ballmaier M, Germeshausen M, Schulze H, Cherkaoui L, Lang S, Gaudig A, et al. C-MPL mutations are the cause of congenital amegakaryocytic thrombocytopenia. Blood. 2001;97:139-46.
5. Germeshausen M, Schulze H, Gaudig A, Krukemeier S, Strauss G, Welte K, et al. Congenital amegakaryocytic thrombocytopenia a defect of the thrombopoietin receptor c-Mpl. Klin Padiatr. 2001;213:155-61.
6. Germeshausen M, Ballmaier M, Welte K. MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopebia: The type of mutation predicts the course of the disease. Hum Mutat. 2006;27:296.
7. King S, Germeshausen M, Strauss G, Welte K, Ballmaier M. Congenital amegakaryocytic thrombocytopenia: A retrospective clinical analysis of 20 patients. B J Haematol. 2005;131:636-44.
8. Thompson AA, Woodruff K, Feig SA, Nguyen LT, Schanen NC. Congenital thrombocytopenia and radio-ulnar synostosis: A new familial syndrome. B J Haematol. 2001;113:866-70.
9. Geddis AE. Inherited thrombocytopenia: Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii. Semin Hematol. 2006;43:196-203.
10. Bruin M, Tijssen MR, Bierings M, De Has M. Juvenile Cyclic Amegakaryocytic Thrombocytopenia a Novel Entity. J Pediatra Hematol Oncol. 2005;27:148-52.
11. Federman N, Sakamoto KM. The genetic basis of bone marrow failure syndromes in children. Mol Genet Metab. 2005;86:100-9.
12. Tamary H, Alter BP. Current diagnosis of inherited bone marrow failure syndromes. Pediatr Hematol Oncol. 2007;24:87-99.
13. Pemberton LC, Levet D, Skinner R, Hall AG, Hanley JP. Novel mutation in a child with congenital amegakaryocytic thrombocytopenia. Br J Haematol. 2006;135:742-6.
14. Passos-Coelho JL, Sebastião M, Gameiro P, Reichert A, Vieira L, Ferreira I, et al. Congenital amegakaryocytic thrombocytopenia report of a new C-MPL gene missense mutation. Am J Hematol. 2007;82:240-1.
15. LacKner A, Basu O, Bierings M, Lassay L, Schaefer UW, Revesz T, et al. Hematopoietic stem cell transplantation for amegakaryocytic thrombocytopenia. Br J Haematol. 2000;109:773-5.
16. Vries DS, Bruin MCA, Bierings M, Revesz T. Congenitale amegakaryocytaire thrombocytopenie: Indicate voor allogene stamcelltransplantatie. Ned Tijdschr Geneeskd. 2000;144:1596-8.