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1、地中海贫血生长发育异常比例 -2004年国际地中海贫血联盟多中心研究资料,身材矮小：男31.3% 女30.5% 无性发育：40.5% 内分泌疾病： 生长激素缺乏症：男7.9% 女8.8% 甲状旁腺功能减低症：6.9% 糖耐量受损6.5% 胰岛素依赖性糖尿病3.2% 原发性甲状腺功能减低3.2%,1.De Sanctis V, Eleftheriou A, Malaventura C, et al,Prevalence of endocrine complications and short stature in patients with thalassaemia major: a multi
2、center study by the Thalassaemia International Federation (TIF).Pediatr Endocrinol Rev.2004;2 (2):249-55.,地中海贫血生长发育因素,多方面因素： 长期贫血 铁负荷过量 慢性肝脏疾病 叶酸缺乏 情绪因素 内分泌疾病 GH-IGF-1轴调节异常 ,Kyriakou A, Skordis N. Thalassaemia and aberrations of growth and puberty，Mediterr J Hematol Infect Dis.2009 ;1(1):1-4,一：长期贫血,
3、长期贫血可引起组织缺血缺氧，器官代偿性增生，出现心脏、骨骼等各器官发育异常，进而影响生长发育。,Skordis N, Kyriakou A，The multifactorial origin of growth failure in thalassaemia，Pediatr Endocrinol Rev.2011 Mar;8 Suppl 2:271-7.,地中海贫血与正常儿童对比,方建陪，李文益，刘秀琴等，地中海贫血患儿生长落后原因的初步探讨，中华血液学杂志 1997；18（13）：656-657,二：垂体铁负荷过量 -目前大多数学者认为的主要因素,生长发育相关激素： 生长激素 甲状腺激素 胰
4、岛素 雄激素 雌激素,下丘脑-垂体-性腺轴,黄永兰，刘莎，夏婷等，重型-地中海贫血患儿生长发育异常及其与铁超负荷的关系，中国当代儿科杂志 2008；10（5）：603-606,铁负荷过量,31例女性地中海贫血： 下丘脑-垂体-性腺功能紊乱15例 促性腺功能减退12例 卵巢发育不全5例 发育延迟13例，均发现血清铁升高,1.H.S. Al-Rimawi, M.F. Jallad, Z.O. Amarinb, et al, Hypothalamic-pituitary-gonadal function in adolescent females with beta-thalassemia majo
5、r, CLINICAL ARTICLE, 2005;3:44-47,考虑铁沉积在垂体前叶，影响下丘脑-垂体-性腺分泌功能，影响激素分泌，影响生长发育。,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 Journal of Radiology 2007;62:13
6、8142,三.IGF-1减少,GH的促生长作用是通过肝、肾等组织依赖GH 而产生的生长介素胰岛素样生长因子(IGF-1)，并与其受体结合蛋白结合发挥作用。 Canale等认为地中海贫血患儿生长受限是因为脑垂体分泌的生长激素在肝脏内转化成生长因子失败。 Merchant RH等发现51.43%地中海贫血患儿IGF-1减低。 Soliman AT等发现矮小的地中海贫血患儿血清IGF-1均减低。,Canale VC, Steinherz P, New M, Erlandson M. Endocrine function in thalassemia major. Ann NY Acad Sci 19
7、74;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.,血清氨基酸 增高：谷氨酸、丝氨酸及脯氨酸； 降低：异亮氨酸、苯丙氨酸、
8、酪氨酸、牛磺酸、谷氨酰胺。 尿液氨基酸： 降低：苯丙氨酸、牛磺酸、缬氨酸、蛋氨酸及亮氨酸，余无明显差异。,氨基酸异常？,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) 183190,参考文献,De Sanctis V, E
9、leftheriou 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. Thalassaemia and aberrations of grow
10、th 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，刘秀琴等，地中海贫血患儿生长落后原因的初步探讨，中华血液学杂志 1997；18（13）：656-657 黄永兰，刘莎，夏婷等，重型-地中海贫血患儿生长发育异常及其与铁超负荷的关系，中国当代儿科杂志 20
11、08；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 the determination of pituita
12、ry 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,Evaluation of growth, puberty an
13、d 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. 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) 183190,谢谢！,