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Articolul urmator |
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Ultima descărcare din IBN: 2022-02-18 02:22 |
SM ISO690:2012 BLĂNIŢĂ, Daniela, BOICIUC, Chiril, ŢUREA, Valentin, STAMATI, Adela, MORAVA, Eva, UŞURELU, Natalia. Complexitatea diagnosticului dereglărilor congenitale ale glicozilării. In: Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină şi Farmacie „Nicolae Testemiţanu”, 21-23 octombrie 2020, Chişinău. Chişinău: USMF, 2020, p. 554. |
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Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină şi Farmacie „Nicolae Testemiţanu” 2020 | ||||||
Congresul "Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină şi Farmacie „Nicolae Testemiţanu”" Chişinău, Moldova, 21-23 octombrie 2020 | ||||||
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Pag. 554-554 | ||||||
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Rezumat | ||||||
Background. Congenital Glycosylation Disorders (CDG) is a group of pathologies caused by the disorder of the glycosylation process of glycoproteins and glycoconjugates with various disabling multisystem impairment mimicking other pathologies. Objective of the study. The aim of this study was to implement the diagnostic algorithm and identify cases of CDG in the cohort of Moldovan patients Material and Method. For the diagnosis of CDG, there were analyzed the serum of 40 patients by isoelectric focusing of transferrin (IEFT) and urine by NMR spectroscopy. Results. The clinical manifestations of the patients included in the study were: hypotonia, hepatomegaly, mild hypoglycemia, increased transaminases, abnormal brain MRI, dysmorphic features, failure to thrive and neurological manifestations. Analyzing the serum by IEFT, 37 were normal profiles, and 3– abnormal profile of the transferrin suspected for CDG. Fructosemia and Galactosemia, considered secondary causes of glycosylation troubles that induce the abnormal IEFT profile suspected for CDG, have been confirmed by biochemical and molecular-genetic analyses in two cases. Another one positive serum will be analyzed by assessing the glycomic profile and confirmation at the DNA level. Conclusion. CDG is a group of rare pathologies with a variety of symptoms that lead to their underdiagnosis. In the process of diagnosing CDG it is mandatory to exclude secondary abnormalities of glycosylation. |
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Cuvinte-cheie CDG, IEFT, rare disease, CDG, IEFT, maladie rară |
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