OPTIMIZATION OF THE DIAGNOSTICS OF INHERITED METABOLIC DISORDERS WITH A POSITIVE RESULT OF EXTENDED NEWBORN SCREENING
| Autor: | I. Samoylenko, T. V. Holota, I. Lastivka, I. Kuzneczov, O. S. Lysenko, A. Kremezna, T. K. Znamenska, V. Kryvosheieva, O. V. Vorobiova |
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| Rok vydání: | 2020 |
| Předmět: | |
| Zdroj: | Neonatology, surgery and perinatal medicine. 10:19-28 |
| ISSN: | 2413-4260 2226-1230 |
| Popis: | Inherited metabolic disorders (IMDs) occupy a significant place in the structure of childhood morbidity and mortality inUkraine. IMDs are the orphan diseases caused by genetic defects of enzymes that catalyze the chemical reactions in the metabolism of amino acids, carbohydrates, organic and fatty acids. The clinical signs of IMDs are nonspecific: they can occur under different guises of another more common somatic diseases, that makes more difficult and extending terms of a correct diagnosis establishing. Expanded neonatal screening (biochemical analysis of capillary blood samples taken from the heel of a newborn and dried on filter paper) proved to be an effective instrument of early IMDs detection. The content of marker substances accumulating in the blood in case of genetic defects of certain enzymes is measured in the dried blood spots. Prompt establishing of a correct diagnosis is key important for affected newborns in a view of rapid accumulation of toxic metabolites that lead to irreversible damage of internal organs and the brain.The goal of the article was data arrangement and systematization of collection information about patient condition, clinical signs, anamnesis, results of clinical laboratory measurements and instrumental examinations to refine and speed up establishing correct diagnosis in case of IMDs suspicion.Materials and methods. Taking into account all important elements of the diagnostic analysis, the authors of this article have developed the special form – CHECKLIST comprising essential information needed for proper interpretation of positive results of expanded newborn screening and further diagnostic test selection.Conclusions. Extensive implementation of the proposed CHECKLIST form will provide an opportunity to improve the process of differential diagnosis establishment, to narrow and focus the diagnostic analysis, and to refer a neonate with suspected IMD to a specialized laboratory to confirm or reject the genetic defect occurrence. Early diagnosis establishing and on time initiating of specific treatment allows to improve significantly the quality of patient’s life, as well as reduce disability and infant mortality. |
| Databáze: | OpenAIRE |
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