Persistent hyperinsulinaemic hypoglycaemia.
Congenital hyperinsulinism (CI) is the most important cause of hypoglycaemia in early infancy. The inappropriate oversecretion of insulin is responsible for profound hypoglycaemias which require aggressive treatment to prevent severe and irreversible brain damage. Hypoglycaemia have a neonatal or infancy onset. Medical treatment with diazoxide is first used to treat CI, but patients who are medically resistant (mostly of neonatal-onset) require pancreatectomy. CI is a heterogeneous disorder with two histopathological lesions, diffuse and focal which are clinically indistinguishable. Only diazoxide-sensitive neonates should be orientated to transient hyperinsulinism or hyperinsulinism-hyperammonemia syndrome. Focal CI is characterized by a sporadic somatic islet-cell hyperplasia. Diffuse CI corresponds to a functional abnormality of insulin secretion in the whole pancreas and involves several genes with different transmissions. The knowledge of both focal and diffuse lesions is very important. Focal lesions are effectively treated by limited pancreatic resection while diffuse lesions which are unresponsive to drug or dietary treatment require extensive pancreatectomy with high risk of diabetes mellitus.
de Lonlay
Pascale
P
Department of Pediatrics, Hôpital Necker-Enfants Malades, Paris, France.
Touati
Guy
G
Robert
Jean-Jacques
JJ
Saudubray
Jean-Marie
JM
D003981:Diazoxide / Q000627:therapeutic use; D004232:Diuretics; D006801:Humans; D006946:Hyperinsulinism / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D007003:Hypoglycemia / Q000209:etiology*; D007231:Infant, Newborn; D010180:Pancreatectomy; D011379:Prognosis; D049993:Sodium Chloride Symporter Inhibitors / Q000627:therapeutic use
D004232:Diuretics; D049993:Sodium Chloride Symporter Inhibitors; D003981:Diazoxide