Naredi Scherman Maria, Lind Alexander, Hamdan Samia, Lundgren Markus, Svensson Johan, Pociot Flemming, Agardh Daniel
Department of Clinical Sciences Malmö, Lund University, Malmö, Sweden.
Department of Pediatrics, Skåne University Hospital, Malmö, Sweden.
Front Pediatr. 2024 Apr 18;12:1386513. doi: 10.3389/fped.2024.1386513. eCollection 2024.
To screen a general pediatric population for type 1 diabetes (T1D), celiac disease (CD), and autoimmune thyroid disease (AITD) after home capillary sampling.
Swedish schoolchildren between 6-9 years and 13-16 years of age were invited to screening by taking a capillary sample at home. Samples were returned by mail and assessed for autoantibodies associated with T1D, CD, and AITD. Persistently autoantibody-positive children were referred for clinical follow-up.
Of 19,593 invited, 3,527 (18.0%) consented to participate and 2,315/3,527 (65.6%) returned a blood sample of sufficient volume. Hemolysis occurred in 830/2,301 (36.1%) samples. After exclusion of 42 children with previously known T1D, CD, or AITD, and two autoantibody-positive children who declined a confirmatory sample, 2,271/19,593 (11.6%) were included. 211/2,271 (9.3%) had persistent autoantibodies: 60/2,271 (2.6%) with T1D autoantibodies, 61/2,271 (2.7%) with CD autoantibodies, and 99/2,271 (4.4%) with AITD autoantibodies; 9/2,271 (0.4%) were autoantibody positive for ≥1 disease. After clinical follow-up, 3/2,271 (0.1%) were diagnosed with T1D, 26/2,271 (1.1%) with CD, and 6/2,271 (0.3%) with AITD. Children with a first-degree relative (FDR) with T1D, CD, and/or AITD, had higher occurrence of autoantibodies compared to children without an FDR (63/344, 18.3%, vs. 148/1,810, 8.2%) ( < 0.0001, OR 2.52, 95% CI 1.83-3.47), and higher occurrence of screening-detected diagnosis (14/344, 4.1%, vs. 21/1,810, 1.2%) ( < 0.0001, OR 3.61, 95% CI 1.82-7.18). Half of these children screened positive for another disease than the FDR.
Screening for T1D, CD, and AITD by home capillary sampling in a Swedish general pediatric population detected autoimmunity in 9.3% and undiagnosed disease in 1.5%.
通过家庭末梢采血对普通儿科人群进行1型糖尿病（T1D）、乳糜泻（CD）和自身免疫性甲状腺疾病（AITD）的筛查。
邀请6 - 9岁和13 - 16岁的瑞典学龄儿童在家中采集末梢血样进行筛查。样本通过邮寄返回，检测与T1D、CD和AITD相关的自身抗体。自身抗体持续阳性的儿童被转诊进行临床随访。
在19593名受邀儿童中，3527名（18.0%）同意参与，2315/3527名（65.6%）返回了足够量的血样。830/2301名（36.1%）样本发生溶血。排除42名既往已知患有T1D、CD或AITD的儿童，以及2名拒绝确认样本的自身抗体阳性儿童后，纳入2271/19593名（11.6%）儿童。211/2271名（9.3%）有持续自身抗体：60/2271名（2.6%）有T1D自身抗体，61/2271名（2.7%）有CD自身抗体，99/2271名（4.4%）有AITD自身抗体；9/2271名（0.4%）对≥1种疾病自身抗体呈阳性。经过临床随访，3/2271名（0.1%）被诊断为T1D，26/2271名（1.1%）被诊断为CD，6/2271名（0.3%）被诊断为AITD。与没有一级亲属（FDR）患有T1D、CD和/或AITD的儿童相比，有FDR的儿童自身抗体出现率更高（63/344，18.3%，对比148/1810，8.2%）（P < 0.0001，OR 2.52，95% CI 1.83 - 3.47），筛查检测出的诊断发生率也更高（14/344，4.1%，对比21/1810，1.2%）（P < 0.0001，OR 3.61，95% CI 1.82 - 7.18）。这些儿童中有一半筛查出除FDR所患疾病之外的另一种疾病呈阳性。
在瑞典普通儿科人群中通过家庭末梢采血筛查T1D, CD和AITD，检测出9.3%的自身免疫性疾病和1.5%的未确诊疾病。
