FA 33% CAMT. MDS 10% Diamond - Blackfan DBA

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1 228 DOI /j. issn X / 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 China IBMFS AA IBMFS IBMFS AA IBMFS R729 A X MDS IBMFS AML FA DC Shwachman - Diamond SDS 33% CAMT 6% FA MDS 10% Diamond - Blackfan DBA AML 5% FA ~ 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

2 229 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 < L g L ~ 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

3 230 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

4 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 < NSAA SAA AA AA NSAA VSAA 1 2 AA SAA VSAA AA Hb < 100 g L < L < L - 1 < ~ < SAA 1 < L < L < L - 1 < L - 1 VSAA SAA VSAA NSAA 13 AA 5% ~ 10% TERT TERC 14 AA 6 MDS AML 15 AA IST HSCT ATG CSA ATG mg kg - 1 d d ATG 10 89% 17 IST SAA HLA MUD ATG 7 ~ 14 d > 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

5 232 9 Menne TF Goyenechea B Sánchez - Puig N. The Shwachman - Bodian - Diamond syndrome protein mediates translational activation of ribosomes in yeast Z IBMFS 10 Vlachos A Ball S Dahl N et al. Diagnosing and treating Diamond Blackfan anaemia Results of an international clinical consensus conference J. Br J Haematol Gluckman E Wagner JE. Hematopoietic stem cell transplantation in childhood inherited bone marrow failure syndrome J. Bone Marrow Transplant Auerbach AD Adler B Chaganti RS. Prenatal and postnatal diagnosis 12 Geddis AE. Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii J. Hematol Oncol Clin North Am 2009 and carrier detection of Fanconi anemia by a cytogenetic method J. Pediatrics Wang W. Emergence of a DNA - damage response network consisting of 13 Marsh JC Ball SE Darbyshire P et al. Guidelines for the diagnosis and Fanconi anaemia and BRCA proteins J. Nat Rev Genet management of acquired aplastic anaemia J. Br J Haematol De Winter JP Joenje H. The genetic and molecular basis of Fanconi ane- 14 Calado RT Yewdell WT Wilkerson KL et al. Sex hormones acting on mia J. Mutat Res the TERT gene increase telomerase activity in human primary hematopoietic cells J. Blood Rosenberg PS Socié G Alter BP et al. Risk of head and neck squamous cell Cancer and death in patients with Fanconi anemia who did and did 15 Cooper JN Calado R Wu C et al. Telomere length of peripheral blood not receive transplants J. Blood leukocytes predicts relapse and clonal evolution after immunosup - 5 Gluckman E Wagner JE. Hematopoietic stem cell transplantation in pressive therapy in severe aplastic anemia J. Blood childhood inherited bone marrow failure syndrome J. Bone Marrow 16 Young NS. Acquired aplastic anemia J. Ann Int Med Transplant Calado RT. Telomeres and marrow failure Z Myers KC Davies SM. Hematopoietic stem cell transplantation for bone 7 Aubert G Lansdorp PM. Telomeres and aging J. Physiol Rev marrow failure syndromes in children J. Biol Blood Marrow Transplant Ip WF Dupuis A Ellis L et al. Serum pancreatic enzymes define the pancreatic phenotype in patients with Shwachman - Diamond syndrome J. J Pediatr X X 1 75 mm 45 mm JPG 300 dpi 1 6 ± ~ ± ~ - / / /d /kg 2. r min mg / g 5 mg g % 40 g L % 950 ml L - 1 5% CO 2 50 ml L - 1 CO 2 10% 100 g L - 1 WBC RBC Hb PLT ESR CRP TNF IL CO 2 CP ICU NICU HIE AST ALT BP ACTH HBsAg DNA RNA AKP Cr BUN LDH CK CK-MB PCR CT MRI ELISA SLE Vit PBS ADHD AL ALL ITP KD NEC NS MP FS SIRS EKG EEG VSD ASD PDA IVIG iv im ip sc icv 4 GB /T