Department of Pediatrics, MRC Oulu, PEDEGO Research Unit, University of Oulu and Oulu University Hospital, Oulu, Finland.
Immunogenetics Laboratory, University of Turku, and Turku University Hospital, Turku, Finland.
Pediatr Diabetes. 2018 Mar;19(2):314-319. doi: 10.1111/pedi.12541. Epub 2017 May 23.
We studied the frequency of diabetic ketoacidosis (DKA) in children at diagnosis of type 1 diabetes (T1D) in a region where newborn infants have since 1995 been recruited for genetic screening for human leukocyte antigen (HLA)-conferred disease susceptibility and prospective follow up. The aim was to study whether participation in newborn screening and follow up affected the frequency of DKA, and to follow the time trends in DKA frequency. We first included children born in Oulu University Hospital since 1995 when the prospective studies have been ongoing and diagnosed with T1D <15 years by 2015 (study cohort 1, n = 517). Secondly, we included all children diagnosed with T1D <15 years in this center during 2002-2014 (study cohort 2, n = 579). Children who had an increased genetic risk for T1D and participated in prospective follow up had low frequency of DKA at diagnosis (5.0%). DKA was present in 22.7% of patients not screened for genetic risk, 26.7% of those who were screened but had not an increased risk and 23.4% of children with increased genetic risk but who were not followed up. In study cohort 2 the overall frequency of DKA was 18.5% (13.0% in children <5 years, 14.0% in children 5-10 years and 28.6% in children ≥10 years at diagnosis; P<.001). In children <2 years the frequency of DKA was 17.1%. Participation in prospective follow-up studies reduces the frequency of DKA in children at diagnosis of T1D, but genetic screening alone does not decrease DKA risk.
我们研究了在一个新生儿自 1995 年以来就开始接受人类白细胞抗原（HLA）易感疾病遗传筛查和前瞻性随访的地区，1 型糖尿病（T1D）患儿初诊时糖尿病酮症酸中毒（DKA）的发生率。目的是研究参与新生儿筛查和随访是否会影响 DKA 的频率，并观察 DKA 频率的时间趋势。我们首先纳入了自 1995 年该前瞻性研究开展以来在奥卢大学医院出生、2015 年之前被诊断为 T1D 且年龄＜15 岁的儿童（研究队列 1，n=517）。其次，我们纳入了该中心 2002-2014 年期间所有被诊断为 T1D 且年龄＜15 岁的儿童（研究队列 2，n=579）。具有 T1D 遗传高风险并参与前瞻性随访的儿童初诊时 DKA 发生率较低（5.0%）。未进行遗传风险筛查的患者中，DKA 发生率为 22.7%；筛查但无高风险的患者中，DKA 发生率为 26.7%；具有遗传高风险但未随访的患者中，DKA 发生率为 23.4%。在研究队列 2 中，总体 DKA 发生率为 18.5%（＜5 岁患儿中为 13.0%，5-10 岁患儿中为 14.0%，≥10 岁患儿中为 28.6%；P＜0.001）。＜2 岁患儿中，DKA 发生率为 17.1%。参与前瞻性随访研究可降低 T1D 患儿初诊时 DKA 的发生率，但单独进行遗传筛查并不能降低 DKA 的风险。
