Canbay Erhan, Vural Melisa, Kalkan Uçar Sema, Sezer Ebru Demirel, Karasoy Hatice, Yüceyar Ayşe Nur, Çoker Mahmut, Sözmen Eser Yildirim
Ege University, Faculty of Medicine, Department of Medical Biochemistry, Izmir, Turkey.
Ege University, Faculty of Medicine, Department of Pediatric Metabolism, Izmir, Turkey.
J Pediatr Endocrinol Metab. 2020 Mar 26;33(3):391-395. doi: 10.1515/jpem-2019-0393.
Background Recently, urinary excretion of the tetrasaccharide 6-α-D-glucopyranosyl-maltotriose (Glc4) has been proposed as a marker for the diagnosis and monitoring of Pompe disease (PD). We aimed to determine the reference intervals and reliable decision-making levels of urine tetrasaccharide concentrations for the diagnosis of infantile- and late-onset Pompe patients in the Turkish population. Methods In this study, nine patients with PD (five of them with late-onset PD [LOPD]) and 226 healthy individuals (aged 0-64 years) were included. Urine Glc4 concentrations were determined using the ultra-high-performance liquid chromatography (UHPLC) tandem mass spectrometry (MS/MS) method. Results Our data showed that the urine tetrasaccharide levels decreased with age in healthy individuals (p < 0.001, r = -0.256). It was higher especially during the first year of life compared to that in the elder subjects. The tetrasaccharide level of Pompe patients was higher compared to that of healthy controls of the same age: 99 ± 68 mmol/mol creatinine for infantile onset vs. 4.0 ± 3.0 mmol/mol creatinine for healthy controls of the same age group and 12.1 ± 17.4 mmol/mol creatinine for late onset vs. 1.7±1.2 mmol/mol creatinine for healthy controls of the same age group. Conclusions The results of this study showed that the reference intervals of tetrasaccharide in urine changed over time; therefore, it is critically important to define age-based decision levels for the diagnosis of LOPD.
背景 最近，已提出将四糖6-α-D-吡喃葡萄糖基麦芽三糖（Glc4）的尿排泄作为庞贝病（PD）诊断和监测的标志物。我们旨在确定土耳其人群中用于诊断婴儿型和晚发型庞贝病患者的尿四糖浓度的参考区间和可靠的决策水平。方法 在本研究中，纳入了9例PD患者（其中5例为晚发型PD [LOPD]）和226名健康个体（年龄0至64岁）。使用超高效液相色谱（UHPLC）串联质谱（MS/MS）法测定尿Glc4浓度。结果 我们的数据显示，健康个体的尿四糖水平随年龄下降（p < 0.001，r = -0.256）。与年长受试者相比，尤其是在生命的第一年中该水平更高。庞贝病患者的四糖水平高于同年龄健康对照组：婴儿型发病者为99±68 mmol/mol肌酐，而同年龄组健康对照组为4.0±3.0 mmol/mol肌酐；晚发型发病者为12.1±17.4 mmol/mol肌酐，而同年龄组健康对照组为1.7±1.2 mmol/mol肌酐。结论 本研究结果表明，尿中四糖的参考区间随时间变化；因此，为LOPD的诊断确定基于年龄的决策水平至关重要。
