在蛋白质代谢的先天性错误中,增长迟缓的青春期起源:一项纵向队列研究
Kanetee Busiah1, Célina Roda2, Anne-Sophie Crosnier3
1Inherited Metabolic Diseases Reference Center, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Filière G2M, MetabERN, Université Paris Cité, Paris, France; Paediatric endocrinology, diabetology and obesity unit, Women-Mothers-Children Department, Lausanne University Hospital, University of Lausanne, Lausanne, Switzerland.
患有遗传性氨基酸代谢障碍 (IAAMD) 的儿童经历增长迟缓,特别是在延迟的青春期. 较低的异黄素水平和氨基酸混合物成分与身高降低有关,独立于IGF1通路.
科学领域:
- 生物化学和遗传学 生物化学和遗传学
- 儿科内分泌学 儿科内分泌学
- 营养科学 营养科学
背景情况:
- 遗传性氨基酸代谢障碍 (IAAMDs) 需要终身限制蛋白质饮食.
- 这些饮食限制可能会影响受影响个体的生长和发育.
研究的目的:
- 调查IAAMD与生长障碍,青春期,骨矿物质明显密度 (BMAD) 和身体组成之间的关联.
- 探索身高,氨基酸混合物 (AAM) 组成,血氨基酸水平和IGF1度之间的关系.
主要方法:
- 一项追溯纵向研究,涉及213名患有新生儿发病的IAAMD (UCD,OA,MSUD,甲状腺炎1型) 的患者.
- 收集的数据包括生长参数,青春期状态,BMAD,身体成分,蛋白质摄入量和整个儿童和青少年时期的IGF1水平.
主要成果:
- 总体最终身高明显低于目标身高,有21%的患者低于-2SD.
- 增长迟缓在青春期恶化,青春期经常被推迟 (26.7%).
- 身高与异黄素度呈正相关性,在接受AAM补充剂的青春期患者中较低;瘦质指数也降低了.
结论:
- 在IAAMD中,增长迟缓在延迟的青春期中加剧,并且似乎与疾病特征,AAM组成和较低的异黄素水平有关,而不是GH-IGF1通路.
- 建议对IAAMD患者进行密切的饮食监测,特别是在青春期.
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