Diagnosis of congenital Hyperinsulinism can occur not only in infancy but also in later age: a new flow chart from a sin
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(2020) 46:131
RESEARCH
Open Access
Diagnosis of congenital Hyperinsulinism can occur not only in infancy but also in later age: a new flow chart from a single center experience Alberto Casertano, Arianna De Matteis, Enza Mozzillo* , Francesco Maria Rosanio, Pietro Buono, Valentina Fattorusso and Adriana Franzese
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. Keywords: Congenital Hyperinsulinism, ABCC8, Hypoglycemia, Diagnostic flow-chart
Background Congenital Hyperinsulinism (CH), first defined by Stanley [1], represents the most common cause of persistent hypoglycemia (HY) in infancy with estimated incidence of 1:40.000–50.000 in general population, up to 1:2500 in case of consanguinity [2]. To date, its prevalence in Italy is not well known [3, 4]. CH is due to alteration of beta-cell membrane channels or intracellular metabolic pathways, involving insulin secretion. In particular, channel defects (ChD), deriving from mutations of the K-ATP channel, represent about 36% of all CH * Correspondence: [email protected] Department of Translational Medical Science, Section of Pediatrics, Federico II University of Naples, Via Sergio Pansini 5, 80131 Naples, Italy
cases [5] and affect ABCC8 and KCJN11 genes, which codify respectively for Sulfonylurea Receptor 1 (SUR1) and Kir6.2 (that are K-ATP channel subunits). Metabolic defects (MeD) are due to defective beta-cell intracellular signaling. To date, 12 genes are known to be responsible for MeD cases [5, 6]; GCK and GLUD1 are the less rarely involved genes. CH is suspected in case of neonatal onset of persistent HY with inappropriately measurable blood insulin levels. A further diagnostic criterion can be an intravenous glucose requirement of more than 8 mg/kg/min [7, 8]. The flow-chart of Maiorana et others [9] proposes to start with metabolic screenings and states that 18F-DOPA PET should be performed in all cases.
© The Author(s). 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, ada
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