新生儿代谢和内分泌紊乱筛查。
Neonatal screening for metabolic and endocrine disorders.
机构信息
Klinik für Kinder- und Jugendmedizin – Allgemeine Pädiatrie – der Westfä -lischen Wilhelms-Universität Münster.
出版信息
Dtsch Arztebl Int. 2011 Jan;108(1-2):11-21; quiz 22. doi: 10.3238/arztebl.2011.0011. Epub 2011 Jan 10.
BACKGROUND
Neonatal screening for treatable endocrinopathies and inborn errors of metabolism is an important preventive measure. Advances in the diagnosis and treatment of these diseases have made it necessary to expand the screening program.
METHODS
This article is based on a selective literature review and our clinical experience.
RESULTS
In 2005, neonatal screening in Germany was expanded from 3 to 14 diseases, as mandated by the responsible governmental authority (the Gemeinsamer Bundesausschuss, i.e., Joint Federal Committee). From 2005 to 2008, screening revealed diseases requiring treatment in 1932 out of a total of 2,758,633 newborns (prevalence, 1 in 1428). The expansion of the screening program resulted in a 57% increase in the overall number of cases detected and a 92% increase for metabolic diseases alone.
CONCLUSION
The German neonatal screening program for treatable endocrinopathies and inborn errors of metabolism is a complex and integrated preventive measure that has become markedly more effective as a result of its expansion in 2005.
背景
新生儿内分泌疾病和先天性代谢缺陷的治疗性筛查是一项重要的预防措施。这些疾病诊断和治疗的进步使得扩大筛查计划成为必要。
方法
本文基于选择性文献回顾和我们的临床经验。
结果
2005 年，德国新生儿筛查从 3 种疾病扩大到 14 种疾病，这是政府相关部门（联邦联合委员会，即 Gemeinsamer Bundesausschuss）的要求。2005 年至 2008 年，在总共 2758633 名新生儿中，筛查发现了 1932 例需要治疗的疾病（患病率为 1/1428）。筛查计划的扩大使总病例数增加了 57%，仅代谢性疾病就增加了 92%。
结论
德国新生儿内分泌疾病和先天性代谢缺陷的治疗性筛查是一项复杂的综合性预防措施，由于 2005 年的扩大，其效果显著提高。
Zotero 插件