Diagnosis of congenital Hyperinsulinism can occur not only in infancy but also in later age: a new flow chart from a single center experience
Abstract 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...
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doaj-db5c13dcb93a4eed9c8987e343ea8f902020-11-25T03:55:01ZengBMCItalian Journal of Pediatrics1824-72882020-09-014611710.1186/s13052-020-00894-5Diagnosis of congenital Hyperinsulinism can occur not only in infancy but also in later age: a new flow chart from a single center experienceAlberto Casertano0Arianna De Matteis1Enza Mozzillo2Francesco Maria Rosanio3Pietro Buono4Valentina Fattorusso5Adriana Franzese6Department of Translational Medical Science, Section of Pediatrics, Federico II University of NaplesDepartment of Translational Medical Science, Section of Pediatrics, Federico II University of NaplesDepartment of Translational Medical Science, Section of Pediatrics, Federico II University of NaplesDepartment of Translational Medical Science, Section of Pediatrics, Federico II University of NaplesDepartment of Translational Medical Science, Section of Pediatrics, Federico II University of NaplesDepartment of Translational Medical Science, Section of Pediatrics, Federico II University of NaplesDepartment of Translational Medical Science, Section of Pediatrics, Federico II University of NaplesAbstract 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.http://link.springer.com/article/10.1186/s13052-020-00894-5Congenital HyperinsulinismABCC8HypoglycemiaDiagnostic flow-chart |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Alberto Casertano Arianna De Matteis Enza Mozzillo Francesco Maria Rosanio Pietro Buono Valentina Fattorusso Adriana Franzese |
spellingShingle |
Alberto Casertano Arianna De Matteis Enza Mozzillo Francesco Maria Rosanio Pietro Buono Valentina Fattorusso Adriana Franzese Diagnosis of congenital Hyperinsulinism can occur not only in infancy but also in later age: a new flow chart from a single center experience Italian Journal of Pediatrics Congenital Hyperinsulinism ABCC8 Hypoglycemia Diagnostic flow-chart |
author_facet |
Alberto Casertano Arianna De Matteis Enza Mozzillo Francesco Maria Rosanio Pietro Buono Valentina Fattorusso Adriana Franzese |
author_sort |
Alberto Casertano |
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_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_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_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 |
publisher |
BMC |
series |
Italian Journal of Pediatrics |
issn |
1824-7288 |
publishDate |
2020-09-01 |
description |
Abstract 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. |
topic |
Congenital Hyperinsulinism ABCC8 Hypoglycemia Diagnostic flow-chart |
url |
http://link.springer.com/article/10.1186/s13052-020-00894-5 |
work_keys_str_mv |
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