Abstract：
Newborn screening (NBS) programmes are considered to be one of the most successful secondary prevention measures in childhood to prevent or reduce morbidity and/or mortality via early disease identification and subsequent initiation of therapy. However, while many rare diseases can now be detected at an early stage using appropriate diagnostics, the introduction of a new target disease requires a detailed analysis of the entire screening process, including a robust scientific background, analytics, information technology, and logistics. In addition, ethics, financing, and the required medical measures need to be considered to allow the benefits of screening to be evaluated at a higher level than its potential harm. Infantile nephropathic cystinosis (INC) is a very rare lysosomal metabolic disorder. With the introduction of cysteamine therapy in the early 1980s and the possibility of renal replacement therapy in infancy, patients with cystinosis can now reach adulthood. Early diagnosis of cystinosis remains important as this enables initiation of cysteamine at the earliest opportunity to support renal and patient survival. Using molecular technologies, the feasibility of screening for cystinosis has been demonstrated in a pilot project. This review aims to provide insight into NBS and discuss its importance for nephropathic cystinosis using molecular technologies.
摘要：
新生儿筛查（NBS）计划被认为是儿童期最成功的二级预防措施之一，可通过早期疾病识别和随后开始治疗来预防或降低发病率和/或死亡率。然而,虽然许多罕见疾病现在可以通过适当的诊断在早期阶段被发现，引入新的目标疾病需要对整个筛查过程进行详细分析，包括强大的科学背景，分析,信息技术,和物流。此外,伦理,融资，并且需要考虑所需的医疗措施，以便在比其潜在危害更高的水平上评估筛查的益处。婴儿肾病性膀胱炎（INC）是一种非常罕见的溶酶体代谢紊乱。随着20世纪80年代初引入半胱胺治疗以及婴儿期肾脏替代治疗的可能性，患有膀胱炎的患者现在可以达到成年。对胱氨酸病的早期诊断仍然很重要，因为这可以尽早启动半胱胺，以支持肾脏和患者的生存。使用分子技术，一项试点项目已经证明了筛查胱氨酸病的可行性。这篇综述旨在提供对NBS的见解，并讨论其使用分子技术对肾病性膀胱炎的重要性。
