Znamenska Tetiana K, Vorobiova Olga V, Holota Тetiana V, Kryvosheieva Vera V, Pokhylko Valeriy I
Si "Institute Of Pediatrics, Obstetrics And Gynecology Named After Academician O. M. Lukyanova Of The Nams Of Ukraine", Kyiv, Ukraine.
Donetsk National Medical University, Lyman, Ukraine.
Wiad Lek. 2020;73(6):1211-1216.
The aim: To compose an applicable diagnostic checklist for neonatologists, pediatricians, and general practitioners who refer newborns with certain inherited metabolic diseases (IMDs) suspicion to confirmatory testing laboratories.
Materials and methods: Analyzed international and generally, known national clinical guides and recommendations devoted to IMDs diagnostics, treatment and follow up.
Results: Considering integral character of the diagnostic work-up of inborn errors of metabolism, authors of this article composed an applicable checklist that comprises set of data necessary for interpretation the positive results of expanded newborn screening and making decision of appropriate biochemical and molecular tests are required for confirmatory follow-up testing to establish the diagnosis and prescribe pathogenetic therapy.
Conclusions: Properly filled checklist allow metabolic professionals to select appropriate confirmatory tests and interpret results obtained. Early IMDs diagnosis and prompt treatment initiation are crucial for positive outcomes and proved to be an effective tool to decrease levels of child disability and infant mortality.
本研究旨在为新生儿科医生、儿科医生以及将疑似患有某些遗传性代谢疾病（IMD）的新生儿转诊至确诊检测实验室的全科医生编写一份适用的诊断清单。
分析了国际上以及国内普遍已知的关于IMD诊断、治疗及随访的临床指南和建议。
考虑到先天性代谢缺陷诊断检查的整体性，本文作者编写了一份适用的清单，其中包含解读扩大新生儿筛查阳性结果以及决定确诊后续检测所需的适当生化和分子检测以确立诊断并制定病因治疗方案所需的一系列数据。
正确填写的清单可使代谢专业人员选择适当的确诊检测并解读所获结果。早期诊断IMD并及时开始治疗对于取得良好预后至关重要，并且已证明是降低儿童残疾水平和婴儿死亡率的有效工具。
