Maggio 2014 - Volume XXXIII - numero 5

Medico e Bambino


L'esperienza che insegna

L’ipoglicemia da iperinsulinismo: la diagnosi, le cause, la gestione

Federico Marchetti1, Vanna Graziani2, Michela Cappella2, Giuseppe Vieni1, Claudia Muratori1, Teresa Tosi3, Martina La Bianca4, Flavio Faletra4

1UOC di Pediatria e Neonatologia, Presidio Ospedaliero di Ravenna, AUSL della Romagna; 2Scuola di Specializzazione in Pediatria, Università di Ferrara; 3Pediatra di famiglia, Faenza; 4Laboratorio di Genetica Medica, IRCCS Materno-Infantile “Burlo Garofolo”, Trieste

Indirizzo per corrispondenza: federico.marchetti@ausl.ra.it

Hypoglycaemia due to hyperinsulinism: diagnosis, causes and management

Key words: Hypoglycaemia, Congenital hyperinsulinism, GLUD1 mutation, Case report

The paper describes the case of a 3-month-old girl with seizures due to persistent nonketotic hypoglicaemia with moderate iperammoniaemia. Once tyrosinemia, urea cycle disorders, deficit of fatty-acids-beta-oxidation and other organic acidurias had been excluded, in consideration of the positive response to glucagon test and elevation of alfa-ketoglutaric- acid in urine, a specific form of congenital hyperinsulinaemic hypoglicaemia was suspected. The genetic analysis confirmed a mutation of GLUD1, encoding glutamate dehydrogenase. Clinical response to diazoxide treatment was optimal with normal fasting blood glucose levels. Congenital hyperinsulinaemic hypoglicaemia (CHH) represents a group of clinically, genetically and morphologically heterogeneous disorders, secondary to disregulation of insulin secretion by pancreatic beta-cells. GLUD1 mutations lead to hyperinsulinism/ hyperammonaemia syndrome (HI/HA) characterized by asymptomatic hyperammonaemia, usually diazoxide-responsive symptomatic hypoglycaemia, seizures and learning disabilities. For a timely diagnosis of CHH, a critical sample and a glucagon stimulation test should be performed during hypoglycaemic events. Diazoxide is the firstline drug for management and a trial should be tried to facilitate differential diagnosis of genetic forms. The paper highlights the importance of early identification and appropriate treatment of these patients to prevent severe neurological insult.

Vuoi citare questo contributo?

F. Marchetti, V. Graziani, M. Cappella, G. Vieni, C. Muratori, T. Tosi, M. La Bianca, F. Faletra L’ipoglicemia da iperinsulinismo: la diagnosi, le cause, la gestione. Medico e Bambino 2014;33(5):309 https://www.medicoebambino.com/?id=1405_309.pdf


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