Congenital hyperinsulinism (CHI) requires rapid diagnosis and treatment to avoid irreversible neurological sequelae due to hypoglycaemia. Aetiological diagnosis is instrumental in directing the appropriate therapy. Current diagnostic algorithms provide a complete set of diagnostic tools including (i) biochemical assays, (ii) genetic facility and (iii) state-of-the-art imaging. They consider the response to a therapeutic diazoxide trial an early, crucial step before proceeding (or not) to specific genetic testing and eventually imaging, aimed at distinguishing diffuse vs focal CHI. However, interpretation of the diazoxide test is not trivial and can vary between research groups, which may lead to inappropriate decisions. Objective of this report is proposing a new algorithm in which early genetic screening, rather than diazoxide trial, dictates subsequent clinical decisions.
Maiorana, A., Barbetti, F., Boiani, A., Rufini, V., Pizzoferro, M., Francalanci, P., Faletra, F., Nichols, C., Grimaldi, C., De Ville De Goyet, J., Rahier, J., Henquin, J., Dionisi Vici, C., Focal congenital hyperinsulinism managed by medical treatment: a diagnostic algorithm based on molecular genetic screening, <<CLINICAL ENDOCRINOLOGY>>, 2014; 81 (5): 679-688. [doi:10.1111/cen.12400] [http://hdl.handle.net/10807/60682]
Focal congenital hyperinsulinism managed by medical treatment: a diagnostic algorithm based on molecular genetic screening
Rufini, Vittoria;
2014
Abstract
Congenital hyperinsulinism (CHI) requires rapid diagnosis and treatment to avoid irreversible neurological sequelae due to hypoglycaemia. Aetiological diagnosis is instrumental in directing the appropriate therapy. Current diagnostic algorithms provide a complete set of diagnostic tools including (i) biochemical assays, (ii) genetic facility and (iii) state-of-the-art imaging. They consider the response to a therapeutic diazoxide trial an early, crucial step before proceeding (or not) to specific genetic testing and eventually imaging, aimed at distinguishing diffuse vs focal CHI. However, interpretation of the diazoxide test is not trivial and can vary between research groups, which may lead to inappropriate decisions. Objective of this report is proposing a new algorithm in which early genetic screening, rather than diazoxide trial, dictates subsequent clinical decisions.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.