L'esperienza che insegna
L’ipoglicemia da iperinsulinismo: la diagnosi, le cause, la gestione
Hypoglycaemia due to hyperinsulinism: diagnosis, causes and management
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
Maggio 2014 - pagg. 309 -314
Abstract
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.
Classificazione MeSH
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Corrispondenza: federico.marchetti@ausl.ra.it