地中海貧血與生長(zhǎng)發(fā)育相關(guān)性參考PPT

1、1,地中海貧血與生長(zhǎng)發(fā)育相關(guān)性,2,地中海貧血生長(zhǎng)發(fā)育異常比例-2004年國(guó)際地中海貧血聯(lián)盟多中心研究資料,身材矮?。耗?1.3% 女30.5% 無(wú)性發(fā)育：40.5% 內(nèi)分泌疾病： 生長(zhǎng)激素缺乏癥：男7.9% 女8.8% 甲狀旁腺功能減低癥：6.9% 糖耐量受損6.5% 胰島素依賴(lài)性糖尿病3.2% 原發(fā)性甲狀腺功能減低3.2,1.De Sanctis V, Eleftheriou A, Malaventura C, et al,Prevalence of endocrine complications and short stature in patients with thalassaemi

2、a major: a multicenter study by the Thalassaemia International Federation (TIF).Pediatr Endocrinol Rev.2004;2 (2):249-55,3,地中海貧血生長(zhǎng)發(fā)育因素,多方面因素： 長(zhǎng)期貧血 鐵負(fù)荷過(guò)量 慢性肝臟疾病 葉酸缺乏 情緒因素 內(nèi)分泌疾病 GH-IGF-1軸調(diào)節(jié)異常,Kyriakou A, Skordis N. Thalassaemia and aberrations of growth and puberty，Mediterr J Hematol Infect Dis.2009 ;

3、1(1):1-4,4,一：長(zhǎng)期貧血,長(zhǎng)期貧血可引起組織缺血缺氧，器官代償性增生，出現(xiàn)心臟、骨骼等各器官發(fā)育異常，進(jìn)而影響生長(zhǎng)發(fā)育,Skordis N, Kyriakou A，The multifactorial origin of growth failure in thalassaemia，Pediatr Endocrinol Rev.2011 Mar;8 Suppl 2:271-7,5,地中海貧血與正常兒童對(duì)比,方建陪，李文益，劉秀琴等，地中海貧血患兒生長(zhǎng)落后原因的初步探討，中華血液學(xué)雜志 1997；18（13）：656-657,6,二：垂體鐵負(fù)荷過(guò)量 -目前大多數(shù)學(xué)者認(rèn)為的主要因素,生長(zhǎng)

4、發(fā)育相關(guān)激素： 生長(zhǎng)激素 甲狀腺激素 胰島素 雄激素 雌激素,下丘腦-垂體-性腺軸,7,黃永蘭，劉莎，夏婷等，重型-地中海貧血患兒生長(zhǎng)發(fā)育異常及其與鐵超負(fù)荷的關(guān)系，中國(guó)當(dāng)代兒科雜志 2008；10（5）：603-606,8,鐵負(fù)荷過(guò)量,31例女性地中海貧血： 下丘腦-垂體-性腺功能紊亂15例 促性腺功能減退12例 卵巢發(fā)育不全5例 發(fā)育延遲13例，均發(fā)現(xiàn)血清鐵升高,1.H.S. Al-Rimawi, M.F. Jallad, Z.O. Amarinb, et al, Hypothalamic-pituitary-gonadal function in adolescent females wi

5、th beta-thalassemia major, CLINICAL ARTICLE, 2005;3:44-47,9,考慮鐵沉積在垂體前葉，影響下丘腦-垂體-性腺分泌功能，影響激素分泌，影響生長(zhǎng)發(fā)育,1.Athanasios Christoforidis, Afroditi Haritandi , Vassilios Perifanis et al, MRI for the determination of pituitary iron overload in children and young adults with -thalassaemia major,European Journa

6、l of Radiology 2007;62:138142,10,三.IGF-1減少,GH的促生長(zhǎng)作用是通過(guò)肝、腎等組織依賴(lài)GH 而產(chǎn)生的生長(zhǎng)介素胰島素樣生長(zhǎng)因子(IGF-1)，并與其受體結(jié)合蛋白結(jié)合發(fā)揮作用。 Canale等認(rèn)為地中海貧血患兒生長(zhǎng)受限是因?yàn)槟X垂體分泌的生長(zhǎng)激素在肝臟內(nèi)轉(zhuǎn)化成生長(zhǎng)因子失敗。 Merchant RH等發(fā)現(xiàn)51.43%地中海貧血患兒IGF-1減低。 Soliman AT等發(fā)現(xiàn)矮小的地中海貧血患兒血清IGF-1均減低,Canale VC, Steinherz P, New M, Erlandson M. Endocrine function in thalassemi

7、a major. Ann NY Acad Sci 1974;232:333 45,Soliman AT, Khalafallah H, Ashour R，Growth and factors affecting it in thalassemia major，Hemoglobin.2009;33 Suppl 1:S116-26,Soliman AT, Khalafallah H, Ashour R，Growth and factors affecting it in thalassemia major，Hemoglobin.2009;33 Suppl 1:S116-26,11,血清氨基酸 增高

8、：谷氨酸、絲氨酸及脯氨酸； 降低：異亮氨酸、苯丙氨酸、酪氨酸、?；撬?、谷氨酰胺。 尿液氨基酸： 降低：苯丙氨酸、?；撬?、纈氨酸、蛋氨酸及亮氨酸，余無(wú)明顯差異,氨基酸異常,1.Yousef M. Abdulrazzaqa,Ahmed Ibrahima, Abdulla I. Al-Khayatb, et al, -Thalassemia major and its effect on amino acid metabolism and growth in patients in the United Arab Emirates,Clinica Chimica Acta 352 (2005) 18

9、3190,12,參考文獻(xiàn),De Sanctis V, Eleftheriou A, Malaventura C, et al,Prevalence of endocrine complications and short stature in patients with thalassaemia major: a multicenter study by the Thalassaemia International Federation (TIF).Pediatr Endocrinol Rev.2004;2 (2):249-55. Kyriakou A, Skordis N. Thalassa

10、emia and aberrations of growth and puberty，Mediterr J Hematol Infect Dis.2009 ;1(1):1-4 Skordis N, Kyriakou A，The multifactorial origin of growth failure in thalassaemia，Pediatr Endocrinol Rev.2011 Mar;8 Suppl 2:271-7. 方建陪，李文益，劉秀琴等，地中海貧血患兒生長(zhǎng)落后原因的初步探討，中華血液學(xué)雜志 1997；18（13）：656-657 黃永蘭，劉莎，夏婷等，重型-地中海貧血患兒

11、生長(zhǎng)發(fā)育異常及其與鐵超負(fù)荷的關(guān)系，中國(guó)當(dāng)代兒科雜志 2008；10（5）：603-606 H.S. Al-Rimawi, M.F. Jallad, Z.O. Amarinb, et al, Hypothalamic-pituitary-gonadal function in adolescent females with beta-thalassemia major, CLINICAL ARTICLE, 2005;3:44-47 Athanasios Christoforidis, Afroditi Haritandi , Vassilios Perifanis et al, MRI for

12、the determination of pituitary iron overload in children and young adults with -thalassaemia major,European Journal of Radiology 2007;62:138142 Canale VC, Steinherz P, New M, Erlandson M. Endocrine function in thalassemia major. Ann NY Acad Sci 1974;232:333 45. Merchant RH, Shirodkar A, Ahmed J,Eval

13、uation of growth, puberty and endocrine dysfunctions in relation to iron overload in multi transfused Indian thalassemia patients, Indian J Pediatr.2011 Jun;78(6):679-83. Soliman AT, Khalafallah H, Ashour R，Growth and factors affecting it in thalassemia major，Hemoglobin.2009;33 Suppl 1:S116-26. Yousef M. Abdulrazza