Department of Paediatric Diabetes and Endocrinology, NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford, UK
Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
Arch Dis Child. 2022 Sep;107(9):790-795. doi: 10.1136/archdischild-2021-321864. Epub 2021 Nov 5.
Type 1 diabetes (T1D) is a chronic autoimmune disease of childhood affecting 1:500 children aged under 15 years, with around 25% presenting with life-threatening diabetic ketoacidosis (DKA). While first-degree relatives have the highest risk of T1D, more than 85% of children who develop T1D do not have a family history. Despite public health awareness campaigns, DKA rates have not fallen over the last decade. T1D has a long prodrome, and it is now possible to identify children who go on to develop T1D with a high degree of certainty. The reasons for identifying children presymptomatically include prevention of DKA and related morbidities and mortality, reducing the need for hospitalisation, time to provide emotional support and education to ensure a smooth transition to insulin treatment, and opportunities for new treatments to prevent or delay progression. Research studies of population-based screening strategies include using islet autoantibodies alone or in combination with genetic risk factors, both of which can be measured from a capillary sample. If found during screening, the presence of two or more islet autoantibodies has a high positive predictive value for future T1D in childhood (under 18 years), offering an opportunity for DKA prevention. However, a single time-point test will not identify all children who go on to develop T1D, and so combining with genetic risk factors for T1D may be an alternative approach. Here we discuss the pros and cons of T1D screening in the UK, the different strategies available, the knowledge gaps and why a T1D screening strategy is needed.
1 型糖尿病（T1D）是一种儿童期慢性自身免疫性疾病，影响 15 岁以下儿童的 1:500，约 25%的患者出现危及生命的糖尿病酮症酸中毒（DKA）。虽然一级亲属患 T1D 的风险最高，但超过 85%的 T1D 患儿没有家族史。尽管开展了公共卫生宣传活动，但过去十年中 DKA 发病率并未下降。T1D 有一个较长的前驱期，现在有可能非常确定地识别出将要发展为 T1D 的儿童。预先识别儿童的原因包括预防 DKA 及其相关的发病率和死亡率，减少住院的需要，为提供情感支持和教育以确保顺利过渡到胰岛素治疗留出时间，以及为预防或延迟进展提供新治疗的机会。基于人群的筛查策略的研究包括单独使用胰岛自身抗体或与遗传危险因素联合使用，这两者都可以从毛细血管样本中测量到。如果在筛查中发现，两种或更多种胰岛自身抗体的存在对儿童（18 岁以下）未来发生 T1D 具有很高的阳性预测值，为预防 DKA 提供了机会。然而，单次检测不会识别所有将要发展为 T1D 的儿童，因此与 T1D 的遗传危险因素结合可能是一种替代方法。在这里，我们讨论了在英国进行 T1D 筛查的利弊、可用的不同策略、知识空白以及为什么需要 T1D 筛查策略。
