Macarthur Clinical School, Western Sydney University School of Medicine, Campbelltown 2560, Australia.
NSW Newborn Screening Program, Locked Bag 2012 Wentworthville, Sydney 2145, Australia.
Nutrients. 2021 Oct 19;13(10):3669. doi: 10.3390/nu13103669.
Are free carnitine concentrations on newborn screening (NBS) 48-72 h after birth lower in patients who develop type 1 diabetes than in controls? A retrospective case-control study of patients with type 1 diabetes was conducted. NBS results of patients from a Sydney hospital were compared against matched controls from the same hospital (1:5). Multiple imputation was performed for estimating missing data (gestational age) using gender and birthweight. Conditional logistic regression was used to control for confounding and to generate parameter estimates (α = 0.05). The Hommel approach was used for post-hoc analyses. Results are reported as medians and interquartile ranges. A total of 159 patients were eligible (80 females). Antibodies were detectable in 86. Median age at diagnosis was 8 years. Free carnitine concentrations were lower in patients than controls (25.50 µmol/L;18.98-33.61 vs. 27.26; 21.22-34.86 respectively) ( = 0.018). Immunoreactive trypsinogen was higher in this group (20.24 µg/L;16.15-29-52 vs. 18.71; 13.96-26.92) ( = 0.045), which did not persist in the post-hoc analysis. Carnitine levels are lower and immunoreactive trypsinogen might be higher, within 2-3 days of birth and years before development of type 1 diabetes as compared to controls, although the differences were well within reference ranges and provide insight into the pathogenesis into neonatal onset of type 1 diabetes development rather than use as a diagnostic tool. Given trypsinogen's use for evaluation of new-onset type 1 diabetes, larger studies are warranted.
新生儿出生后 48-72 小时行新生儿筛查时，游离肉碱浓度在未来会发展为 1 型糖尿病的患者中是否低于对照组？对确诊为 1 型糖尿病的患者进行了回顾性病例对照研究。将悉尼医院患者的新生儿筛查结果与同一医院的匹配对照组（1:5）进行比较。采用性别和出生体重进行多重插补估计缺失数据（胎龄）。采用条件逻辑回归控制混杂因素并生成参数估计值（α=0.05）。采用 Hommel 方法进行事后分析。结果以中位数和四分位间距表示。共有 159 例患者符合条件（80 例女性）。86 例患者可检测到抗体。中位诊断年龄为 8 岁。患者的游离肉碱浓度低于对照组（25.50µmol/L；18.98-33.61 vs. 27.26；21.22-34.86）（=0.018）。该组免疫反应性胰蛋白酶原水平较高（20.24µg/L；16.15-29-52 vs. 18.71；13.96-26.92）（=0.045），但在事后分析中未持续存在。与对照组相比，在出生后 2-3 天内，1 型糖尿病发生前数年，肉碱水平较低，免疫反应性胰蛋白酶原可能较高，尽管差异在参考范围内，但深入了解了新生儿期 1 型糖尿病发病的发病机制，而不是作为诊断工具。鉴于胰蛋白酶原用于评估新发 1 型糖尿病，需要进行更大规模的研究。
