228 DOI 10. 3969 /j. issn. 1003-515X. 2012. 03. 029 / 200127 Diagnosis and Treatment of Bone Marrow Failure LIU Qiu - xia TANG Jing - yan Department of Hematology /Oncology Shanghai Children' s Medical Center School of Medicine Shanghai Jiaotong University Shanghai 200127 China IBMFS AA IBMFS IBMFS AA IBMFS 2012 27 3 228-232 R729 A 1003-515X 2012 03-0228 - 05 MDS IBMFS AML FA DC Shwachman - Diamond SDS 33% CAMT 6% FA MDS 10% Diamond - Blackfan DBA AML 5% FA 6. 5 0 ~ AA IBMFS 50 AA FA IBMFS FA FA DC SDS AA FA FA FA IBMFS DEB C MMC DNA FA DC AA 1 FA DNA IBMFS FA X- 13 FANC-A B C D1 BRCA2 D2 E F G I /J L M N FANC-A 1 FA 70% FANC-C TANC-G FA IBMFS DNA FA A B C E F G L M / FANCD2 / FANCD2 DNA FANCD1 /BRCA2 yantfk@ gmail. com
229 BRCA1 RAD51 and NBS1 DNA 2 DNA FA 2 ~ 5 mg kg - 1 d - 1 FANCD1 BRCA2 FANCJ BRIP1 /BACH1 BRCA1 DNA FANCN PALB2 BRCA2 G-CSF BRCA2 3 FA FA DNA FA FA DNA FA G- CSF FAC AA FA FA MDS AML FA FA 2 DC FANCD2 IBMFS FA D1 J FA DC DC FANCD2 FA FA DC G2 /M FA FA FA 20 ~ 30 Hoyeraal - Hreidarsson Revesz DC AA FA HSCT FA DC FA 14 < 1 10 9 L - 1 80 g L - 1 40 ~ 50 10 9 L - 1 HSCT AA DC DC DC DC FA TERC ERCT DC FA 3 X- AA FA DKC1 X- FA DC DKC1 dyskerin RNA TERC ERCT MSD 64% ~ 89% DC MUD 30% NOP10 /NOLA3 NHP /NOLA2 6 4 FA DNA HSCT FA HSCT GVHD FA TERC TERT dyskerin GAR1 NHP2 NOP10 HSCT FA 4 5 HSCT FA DC DC
230 HSCT SDS FA FA DC SDS DC AA AML G-CSF SDS DC 20 7 ~ 8 kb DC 4 DBA 3 ~ 5 kb 7 DBA HSCT DC DBA DC ADA DC DC FA HSCT AML DBA DBA 1 /4 FA DC FA 0. 5 ~ 1. 0 mg kg - 1 d DBA - 1 HSCT DC RPS19 S19 HSCT 25% DBA RPL5 RPL11 RPS24 DSA ADA 3 SDS ADA 10 SDS DBA DBA 1 ~ 2 DBA 2 mg kg - 1 d - 1 SDS AA AML 40% > 50% 1 SDS 20% DBA SDS HSCT 2% ~ 5% DBA SDS DBA 50% SDS 5 a 87. 5% 11 SDS 5 CAMT CAMT 8 3 ~ 5 a AA 3 SDS IBMFS CAMT 3 CAMT TPO SDS TPO C-MLP TPO C-MLP SBDS CAMT 12 C-MLP SDS 90% SDS SBDS SDS C-MLP C-MLP 9 CAMT SDS AML HSCT
231 16 IL-3 SAA HLA MSD HSCT - GM-CSF SAA 85% 6 AA AA < 15 ~ 20 MUD SAA 70% ~ 80% 79 SAA SAA IBMSF MDS HSCT 85. 7% 85. 7% IST PNH 53. 4% 34. 4% P < 0. 001 NSAA SAA AA AA NSAA VSAA 1 2 AA SAA VSAA AA 3 2 1 Hb < 100 g L - 1 2 < 1. 5 10 9 L - 1 3 < 50 10 9 L - 1 < 0. 25 0. 25 ~ 0. 50 < 0. 30 3 2 SAA 1 < 20 10 9 L - 1 2 < 0. 5 10 9 L - 1 3 < 20 10 9 L - 1 < 0. 2 10 9 L - 1 VSAA SAA VSAA NSAA 13 AA 5% ~ 10% TERT TERC 14 AA 6 MDS AML 15 AA IST HSCT ATG CSA ATG 3. 75 mg kg - 1 d - 1 5 d ATG 10 89% 17 IST SAA HLA MUD ATG 7 ~ 14 d > 20 10 9 L - 1 CSA 5 mg kg - 1 IBMFS d - 1 CSA 100 ~ 150 μg IBMFS L - 1 CSA 1 a CSA IST ATG + CSA ATG + CSA AA IBMFS 70% ~ 80% FA DC DSA 5 a 80% ~ 90% ATG CSA HSCT IBMFS AA IBMFS
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