有效的长期儿科佩格维索曼特单疗法到最终的高度在X链接的巨症
Christine P Burren1,2, Georgina Williams3, Edward Coxson4
1Department of Paediatric Endocrinology and Diabetes, Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol BS1 3NU, UK.
JCEM case reports
|November 1, 2023
概括
由GPR101重复引起的X链接巨症 (X-LAG) 会导致过度生长. 佩格维索曼特有效地使IGF-1正常化,并阻止了患者的生长,证明了长期的安全性和有效性.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
背景情况:
- 与X相关的巨症 (X-LAG) 是一种罕见的遗传疾病,其特点是极高的身材.
- 它是由GPR101基因重复造成的,导致生长激素 (GH) 过量,通常呈现出分泌GH和益生菌素的垂体瘤.
- 扩散性垂体过度增生和正常的益生素水平在X-LAG中不常见.
研究的目的:
- 报告一个异常呈现的X-LAG病例 (正常的益生菌素,最初没有垂体瘤).
- 评估Pegvisomant治疗在X-LAG.患者的长期疗效和安全性.
- 突出X-LAG的遗传基础和治疗管理.
主要方法:
- 一个身材高大的女孩的临床病例介绍.
- 激素评估 (GH,IGF-1,GHRH,益生菌素) 和垂体MRI.
- 对GPR101重复的基因测试和AIP和MEN1基因的分析.
- 药理学治疗评估 (索马托斯塔丁类似物,多巴胺激动剂,维索曼特).
主要成果:
- 这位患者身高极高 (+4.25 SD评分在5岁时) 和GH过量,但13年来正常的益生素和正常的垂体MRI.
- 基因测试证实了GPR101的重复.
- 佩格维索曼治疗使IGF-1正常化并停止生长,持续控制和安全性超过7年,尽管最初的逃避需要调整剂量.
- 最终达到的高度是+2.9 SD得分.
结论:
- X-LAG可以呈现异常,没有脑垂体瘤或超益生菌性血.
- 佩格维索曼是X-LAG的有效和安全的长期治疗方法,可以实现IGF-1的生长控制和正常化.
- 对X-LAG患者来说,关于生殖影响的遗传咨询是必不可少的.
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