先天性血小板減少症·異常症の診断 ... - jspho.jp

1 1.. ITP . ITP ITP . ITP .. ITP .. ( ) .. mean platelet volume: MPV . MPV . 2 ( 4 . m) ( 8 m) ITP . 1 .. 2 .. 3 4 .. ( 1) . 19 .. 1. A. Wiskott-Aldrich WAS X X-linked thrombocytopenia XLT ( 2-8). X Wiskott-Aldrich WAS . 3 WASP WASP . X X-linked thrombocytopenia XLT ITP WAS . XLT . WAS . XLT ITP AIHA . IgA B . 60 . T B NK WASP . WASP WASP PIDJ primary immunodeficiency database in Japan .. WAS WASP WASP . WAS WIP WIP WASP WASP. WIP WIP 1 WIP .. ITP . A. Congenital amegakaryocytic thrombocytopenia: CAMT) ( 9,10).

2 3 thrombopoietin(TPO). MPL TPO MPL . 100 . B. (Congenital thrombocytopenia with radio-ulnar synostosis) ( . 11,12). X . HOXA11 . 10 . / HOXA11 . C. (Thrombocytopenia with absent radii: TAR ) ( 13). X . 2. RNA . 4 1 Y14 RBM8A RNA binding motif protein 8A null . 2 single nucleotide polymorphism(SNP) 1 . 53 51 RBM8A 2 RBM8A . null SNP RBM8A . Y14 . D. (Familial platelet disorder with propensity to myeloid malignancy) ( 14). 35 MDS/AML. 7 45 ITP AML/MDS. RUNX1(AML1) 20 . E. (Autosomal dominant thrombocytopenia, thrombocytopenia 2: THC2) (.)

3 15,16). GP . a 10 3-8 . TPO . ANKRD26 Ankyrin repeat domain-containing protein 26 5'- 113 (30 ) . F. c (Cytochrome c mutation) ( 17,18).. Cytochrome c (G41S) . 1 .. 19 . Bernard-Soulier (BSS) 2B von Willebrand .. A(NMMHC- A) MYH9 . IIA . GP b/ X GP b/ a Bernard-Soulier GP b/ a . Gray platelet . Paris-Trousseau/Jacobsen GATA-1 7 . 209 117 72% MYH9 . 3. 42% . BSS 13% . A. MYH9 (MYH9 disorders) ( 20). May-Hegglin MHA MYH9 . IIA NMMHCA- A MYH9 . Sebastian Alport Fechtner . Epstein MYH9 MYH9 D hle . MYH9 NMMHCA- A.

4 NMMHCA- A MYH9 . MYH9 MYH9 MYH9 .. B. Bernard-Soulier (Bernald-Soulier syndrome: BSS) ( 21,22). Bernard-Soulier GP b/ / .. BSS ITP .. C. DiGeorge (DiGeorge/Velocardiofacial syndrome) ( 23,24). DiGeorge 22q11 GP1BB .. D. GP b/ a ITGA2B/ITGB3 mutations ( 25,26). GP b/ a b 3 .. GP b/ a ITGA2B/ITGB3 .. GP b/ a GP b/ a PAC-1 . CD62P . E. -actinin-1 ACTN1 mutations ( 27). ACTN1 -actinin-1 .. ACTN1 BSS GPIIb/IIIa . m . 4. F. 2B von Willebrand (Type 2B von Willebrand disease: Type 2B vWD) ( 28). 2B von Willebrand GP b/ vWF.

5 VWF ITP . 30% . 30% APTT . Montreal platelet .. G. X (X-linked macrothrombocytopenia) ( 29). GATA1 Zn . GATA1 X X . GP1BA, GP1BB, GP9 GP5 GATA1 . FOG-1 DNA FOG-1 .. H. Paris-Trousseau/Jacobsen ( Paris-trousseau/Jacobsen syndrome) ( 30). Paris-Trousseau /Jacobsen 11q23 .. FLI1 .. I. Gray platelet (Gray platelet syndrome: GPS) ( 31-33). Gray platelet .. vWF Gray platelet NBEAL2 .. J. 1 tubulin (TUBB1 mutations) ( 34). 1-tubulin -tubulin . 1 tubulin . TUBB1 . K. (Periventricular heterotopia: PH) ( 35). Filamin A.

6 Periventricular heterotopia: PH FLNA X . X Filamin A FLNA .. 5.. 980-8574 1-1. TEL:022-717-7287 FAX: 022-717-7290. E-mail: .. 460-0001 4-1-1. TEL:052-951-1111 FAX: 052-951-0664. E-mail: . ITP . 23 12 .. E-mail: . (1) .. 50(2): ,2013,in press. PDF . (2) .Wiskott-Aldrich . 28:140-147,2005. (3) .Wiskott-Aldrich WIP . 21:141-150,2007. (4)Imai K, Morio T, et al. Clinical course of patients with WASP gene mutations. Blood 103:456-464,2004. (5)Albert MH, Bittner TC, et al. X-linked thrombocytopenia(XLT) due to WASP mutation: clinical characteristics, long-term outcome, and treatment options.

7 Blood 115: 3231-3238,2010. (6)Sasahara Y, Rachid R, et al. Mechanism of recruitment of WASP to the immunological synapse and of its activation following TCR ligation. Mol. Cell, 10:1269-1281, 2002. (7)de la Fuente MA, Sasahara Y, et al. WIP is a chaperone for Wiskott-Aldrich syndrome protein(WASP). , :926-931,2007. 6. (8)Lanzi G, Moratto D, et al. A novel primary immunodeficiency due to deficiency in the WASP-interacting protein WIP. :29-34,2012. (9) Ballmaier M, Germeshausen M. Advances in the understanding of congenital amegakaryocytic thrombocytopenia.

8 :3-16,2009. (10)Ballmaier M, Germeshausen M. Congenital amegakaryocytic thrombocytopenia: clinical presentation, diagnosis, and treatment. :673-681, 2011. (11)Thompson AA, Nguyen LT. Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation. :397-398,2000. (12)Castillo-Caro P, Dhanraj S, et al. Proximal radio-ulnar synostosis with bone marrow failure syndrome in an infant without a HOXA11 mutation. :479-485,2010. (13)Albers CA, Paul DS, et al. Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.

9 :435-439,2012. (14)Owen CJ, Toze CL, et al. Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy. Blood 112: 4639-4645,2008. (15)Pippucci T, Savoia A, et al. Mutations in the 5'UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2. :115-120,2011. (16)Noris P, Perrotta S, et al. Mutations in ANKRD26 are responsible for frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.

10 Blood 117:6673-6680,2011. (17)Morison IM, Cramer Bord EM, et al. A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia. : 387-389,2008. (18) Bord EC, Ouzegdouh Y, et al. Congenital thrombocytopenia and cytochrome c mutation: a matter of birth and death. :664-672,2011. (19) . 49:382-386, 2012. PDF . (20) Kunishima S, Saito H. Advances in the understanding of MYH9 disorders. Curr. Opin. :405-410,2010. (21) Kunishima S, Kamiya T, et al. Genetic abnormalities of Bernard-Soulier syndrome.