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Diagnosis of congenital Hyperinsulinism can occur not only in infancy but also in later age: a new flow chart from a single center experience

BACKGROUND: Congenital Hyperinsulinism typically occurs with a neonatal hypoglycemia but can appear even in childhood or in adolescence with different types of glucose metabolism derangements. Current diagnostic algorithms don’t take into account cases with a late presentation. PATIENTS AND METHODS:...

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Detalles Bibliográficos
Autores principales: Casertano, Alberto, De Matteis, Arianna, Mozzillo, Enza, Rosanio, Francesco Maria, Buono, Pietro, Fattorusso, Valentina, Franzese, Adriana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7490857/
https://www.ncbi.nlm.nih.gov/pubmed/32928245
http://dx.doi.org/10.1186/s13052-020-00894-5
Descripción
Sumario:BACKGROUND: Congenital Hyperinsulinism typically occurs with a neonatal hypoglycemia but can appear even in childhood or in adolescence with different types of glucose metabolism derangements. Current diagnostic algorithms don’t take into account cases with a late presentation. PATIENTS AND METHODS: Clinical and laboratory data of twenty-two subjects diagnosed at Federico II University of Naples have been described: patients have been divided according to the molecular defect into channel defects, metabolic defects and unidentified molecular defects. A particular focus has been made on three cases with a late presentation. RESULTS AND CONCLUSIONS: Late presentation cases may not be identified by previous diagnostic algorithms. Consequently, it seems appropriate to design a new flow-chart starting from the age of presentation, also considering that late presentation cases can show glucose metabolism derangements other than hypoglycaemic crises such as diabetes, glucose intolerance, postprandial hypoglycaemia and gestational diabetes.