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New Engl J Med：患巨人症和肢端肥大是因为基因突变？

2014-12-15 MedSci MedSci原创译

巨人症肢端肥大垂体腺瘤儿童多倍体复制
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生长是由一系列激素经过复杂的调控程序而导致的，这些激素来源于下丘脑，垂体和外周组织。遗传性疾病会引起生长激素分泌增加，导致肢端肥大。如果在骨骺闭合之前生长激素过度分泌，就会引起儿童型巨人症。非综合征型巨人症是由腺垂体的分泌紊乱所导致的，通常表现为家族性孤立垂体腺瘤或偶发垂体腺瘤。目前生长激素所导致的儿童巨人症和成人指端肥大的发病率正在上升，但是对于巨人症和肢端肥大症遗传学基础的认识还不够充分。为了

生长是由一系列激素经过复杂的调控程序而导致的，这些激素来源于下丘脑，垂体和外周组织。遗传性疾病会引起生长激素分泌增加，导致肢端肥大。如果在骨骺闭合之前生长激素过度分泌，就会引起儿童型巨人症。非综合征型巨人症是由腺垂体的分泌紊乱所导致的，通常表现为家族性孤立垂体腺瘤或偶发垂体腺瘤。目前生长激素所导致的儿童巨人症和成人指端肥大的发病率正在上升，但是对于巨人症和肢端肥大症遗传学基础的认识还不够充分。为了研究巨人症和肢端肥大症的发病机制，Trivellin G教授等开展了一项临床和遗传学研究，检测43名巨人症患者和248名肢端肥大患者的基因突变情况。该研究发表于近日的新英格兰医学杂志上。结果发现，13名巨人症患者携带多倍体Xq26.3基因，其中有4人从2个无关家族基因中获得多倍体复制，而9名患者遗传了父母的散发Xq26.3多倍体基因。所有患者均在儿童时期发病。不携带Xq26.3多倍体基因的巨人症患者在5岁前不发病。变异的Xq26.3区域的基因在染色体复制时发生多倍体复制，产生4个蛋白编码基因。其中只有GPR101基因可以编码G蛋白耦合受体，而该基因在父母垂体组织中过表达。研究者从248名肢端肥

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    2015-02-27 haouestc

    #Engl#

    0

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    2015-04-03 spoonycyy

    #Eng#

    0

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    2015-10-25 654699882_84926994

    #肢端肥大#

    0

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    2015-08-14 1249859em38(暂无昵称)

    #巨人症#

    0

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    2015-06-08 ljjj1053

    好好学习学习

    0

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    2014-12-17 ms3994565386320060

    #Med#

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