c-mplの発現異常をみとめた先天性無巨核球性血小板減少症の1例
先天性無巨核球性血小板減少症 (CAMT) は血小板減少および骨髄での巨核球の欠如を認め, 成長とともに汎血球減少を呈する稀な疾患である.近年, 骨髄単核球でthrombopoietin receptor (c-mpl) の異常が報告されている.症例は10歳男乳.ITPとしてfbllowされていたが, 骨髄検査で巨核球は認められず, 各種ITPの治療に反応不良であり, 9歳時より汎血球減少を認めるようになった.これらよりCAMTを疑い骨髄単核球でのc-kit, c-mplの発現をPCR法にて検討した.c-kitのmRNAの発現は認められstemcellの存在は示唆されたが, c-mplのmRN...
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| Published in | 日本小児血液学会雑誌 Vol. 14; no. 1; pp. 37 - 41 |
|---|---|
| Main Authors | , , , , |
| Format | Journal Article |
| Language | Japanese |
| Published |
特定非営利活動法人 日本小児血液・がん学会
29.02.2000
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| Subjects | |
| Online Access | Get full text |
| ISSN | 0913-8706 1884-4723 |
| DOI | 10.11412/jjph1987.14.37 |
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| Abstract | 先天性無巨核球性血小板減少症 (CAMT) は血小板減少および骨髄での巨核球の欠如を認め, 成長とともに汎血球減少を呈する稀な疾患である.近年, 骨髄単核球でthrombopoietin receptor (c-mpl) の異常が報告されている.症例は10歳男乳.ITPとしてfbllowされていたが, 骨髄検査で巨核球は認められず, 各種ITPの治療に反応不良であり, 9歳時より汎血球減少を認めるようになった.これらよりCAMTを疑い骨髄単核球でのc-kit, c-mplの発現をPCR法にて検討した.c-kitのmRNAの発現は認められstemcellの存在は示唆されたが, c-mplのmRNAの発現は認めなかった.また, 血中のTPOは18.08fmole/mlと異常高値を示した.以上よりc-mplの発現異常を有するCAMTと考えた.予後不良な疾患のため10歳時, 非血縁者間臍帯血移植を施行した. |
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| AbstractList | 先天性無巨核球性血小板減少症 (CAMT) は血小板減少および骨髄での巨核球の欠如を認め, 成長とともに汎血球減少を呈する稀な疾患である.近年, 骨髄単核球でthrombopoietin receptor (c-mpl) の異常が報告されている.症例は10歳男乳.ITPとしてfbllowされていたが, 骨髄検査で巨核球は認められず, 各種ITPの治療に反応不良であり, 9歳時より汎血球減少を認めるようになった.これらよりCAMTを疑い骨髄単核球でのc-kit, c-mplの発現をPCR法にて検討した.c-kitのmRNAの発現は認められstemcellの存在は示唆されたが, c-mplのmRNAの発現は認めなかった.また, 血中のTPOは18.08fmole/mlと異常高値を示した.以上よりc-mplの発現異常を有するCAMTと考えた.予後不良な疾患のため10歳時, 非血縁者間臍帯血移植を施行した. |
| Author | 池宮, 美佐子 細井, 岳 石井, 榮一 吉田, 信之 迫, 正廣 |
| Author_FL | IKEMIYA Misako HOSOI Gaku SAKO Masahiro YOSHIDA Nobuyuki ISHII Eiichi |
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| DocumentTitleAlternate | Impaired Expression of c-mpl mRNA of Bone Marrow Cells in a Case of Congenital Amegakaryocytic Thrombocytopenia |
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| References | 3) Henter JI, Winiarski J, Ljungman P, et al : Bone marrow transplantation in two children with congenital amegakaryocytic thrombocytopenia. Bone Marrow Transplant 15 : 799-801, 1995 6) Alexander WS, Roberts AW, Nicola NA, et al : Deficiencies in progenitor cells of multiple hematopoietic lineages and defective megakaryocytopoiesis in mice lacking the thrombopoietin receptor c-Mpl. Blood 87 : 2162-2170, 1996 1) Alter BP, Young NS : Amegakaryocytic thrombocytopenia. Hematology of Infancy and Childhood, Nathan DG ed 4th ed Saunders Co Philadelphia 1993,254-256 7) Ballmaier M, Schulze H, Straub G, et al : Thrombopoietin in patients with congenital thrombocytopenia and absent radii : Elevated serum levels, normal receptor expression, but defective reactivity to thrombopoietin. Blood 90 : 612-619, 1997 9) Gluckman E, Rocha V, Chastang C, et al : Cord blood hematopoietic stem cells biology and transplantation. Hematology 1998 Education Program of the American Society of Hematology, 1-14 4) Yoshida M, Tsuji K, Ebihara Y, et al : Thrombopoietin alone stimulate the early proliferation and survival of human erythroid, myeloid and multipotential progenitors in serum-free culture. Br J Haematol 98 : 254-264, 1997 5) Kobayashi M, Laver JH, Kato T, et al : Thrombopoietin supports proliferation of human primitive hematopoietic cells in synergy with steel factor and/or interleukin-3. Blood 88 : 429-436, 1996 8) MacMillan ML, Davies SM, Wagner JE, et al : Engraftment of unrelated donor stem cells in children with familial amegakaryocytic thrombocytopenia. Bone Marrow Transplant 21 : 735-737, 1998 2) Muraoka K, Ishii E, Tsuji K, et al : Defective response to thrombopoietin and impaired expression of c-mpl mRNA of bone marrow cells in congenital amegakaryocytic thrombocytopenia. Br J Haematol 96 : 287-292, 1997 |
| References_xml | – reference: 2) Muraoka K, Ishii E, Tsuji K, et al : Defective response to thrombopoietin and impaired expression of c-mpl mRNA of bone marrow cells in congenital amegakaryocytic thrombocytopenia. Br J Haematol 96 : 287-292, 1997 – reference: 4) Yoshida M, Tsuji K, Ebihara Y, et al : Thrombopoietin alone stimulate the early proliferation and survival of human erythroid, myeloid and multipotential progenitors in serum-free culture. Br J Haematol 98 : 254-264, 1997 – reference: 6) Alexander WS, Roberts AW, Nicola NA, et al : Deficiencies in progenitor cells of multiple hematopoietic lineages and defective megakaryocytopoiesis in mice lacking the thrombopoietin receptor c-Mpl. Blood 87 : 2162-2170, 1996 – reference: 9) Gluckman E, Rocha V, Chastang C, et al : Cord blood hematopoietic stem cells biology and transplantation. Hematology 1998 Education Program of the American Society of Hematology, 1-14 – reference: 1) Alter BP, Young NS : Amegakaryocytic thrombocytopenia. Hematology of Infancy and Childhood, Nathan DG ed 4th ed Saunders Co Philadelphia 1993,254-256 – reference: 5) Kobayashi M, Laver JH, Kato T, et al : Thrombopoietin supports proliferation of human primitive hematopoietic cells in synergy with steel factor and/or interleukin-3. Blood 88 : 429-436, 1996 – reference: 7) Ballmaier M, Schulze H, Straub G, et al : Thrombopoietin in patients with congenital thrombocytopenia and absent radii : Elevated serum levels, normal receptor expression, but defective reactivity to thrombopoietin. Blood 90 : 612-619, 1997 – reference: 3) Henter JI, Winiarski J, Ljungman P, et al : Bone marrow transplantation in two children with congenital amegakaryocytic thrombocytopenia. Bone Marrow Transplant 15 : 799-801, 1995 – reference: 8) MacMillan ML, Davies SM, Wagner JE, et al : Engraftment of unrelated donor stem cells in children with familial amegakaryocytic thrombocytopenia. Bone Marrow Transplant 21 : 735-737, 1998 |
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| Snippet | 先天性無巨核球性血小板減少症 (CAMT) は血小板減少および骨髄での巨核球の欠如を認め, 成長とともに汎血球減少を呈する稀な疾患である.近年, 骨髄単核球でthrombopoietin receptor (c-mpl) の異常が報告されている.症例は10歳男乳.ITPとしてfbllowされていたが,... |
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| SubjectTerms | c-mpl congenital amegakaryocytic thrombocytopenia (CAMT) cord blood transplant thrombopoietin receptor |
| Title | c-mplの発現異常をみとめた先天性無巨核球性血小板減少症の1例 |
| URI | https://www.jstage.jst.go.jp/article/jjph1987/14/1/14_1_37/_article/-char/ja https://cir.nii.ac.jp/crid/1572261549915692800 |
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| ispartofPNX | 日本小児血液学会雑誌, 2000/02/29, Vol.14(1), pp.37-41 |
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