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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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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
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author Casertano, Alberto
De Matteis, Arianna
Mozzillo, Enza
Rosanio, Francesco Maria
Buono, Pietro
Fattorusso, Valentina
Franzese, Adriana
author_facet Casertano, Alberto
De Matteis, Arianna
Mozzillo, Enza
Rosanio, Francesco Maria
Buono, Pietro
Fattorusso, Valentina
Franzese, Adriana
author_sort Casertano, Alberto
collection PubMed
description 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.
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spelling pubmed-74908572020-09-16 Diagnosis of congenital Hyperinsulinism can occur not only in infancy but also in later age: a new flow chart from a single center experience Casertano, Alberto De Matteis, Arianna Mozzillo, Enza Rosanio, Francesco Maria Buono, Pietro Fattorusso, Valentina Franzese, Adriana Ital J Pediatr Research 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. BioMed Central 2020-09-14 /pmc/articles/PMC7490857/ /pubmed/32928245 http://dx.doi.org/10.1186/s13052-020-00894-5 Text en © The Author(s) 2020 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Research
Casertano, Alberto
De Matteis, Arianna
Mozzillo, Enza
Rosanio, Francesco Maria
Buono, Pietro
Fattorusso, Valentina
Franzese, Adriana
Diagnosis of congenital Hyperinsulinism can occur not only in infancy but also in later age: a new flow chart from a single center experience
title Diagnosis of congenital Hyperinsulinism can occur not only in infancy but also in later age: a new flow chart from a single center experience
title_full Diagnosis of congenital Hyperinsulinism can occur not only in infancy but also in later age: a new flow chart from a single center experience
title_fullStr Diagnosis of congenital Hyperinsulinism can occur not only in infancy but also in later age: a new flow chart from a single center experience
title_full_unstemmed Diagnosis of congenital Hyperinsulinism can occur not only in infancy but also in later age: a new flow chart from a single center experience
title_short Diagnosis of congenital Hyperinsulinism can occur not only in infancy but also in later age: a new flow chart from a single center experience
title_sort diagnosis of congenital hyperinsulinism can occur not only in infancy but also in later age: a new flow chart from a single center experience
topic Research
url 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
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