_ERN-NMD DESEASES_
Versione in italiano
WHAT IS
Congenital hyperinsulinism is the most common cause of persistent hypoglycemia in children and may depend on genetic or acquired causes. It is caused by excessive and unregulated secretion of insulin from the pancreas which leads to severe and recurrent episodes of hypoglycemia.
HOW DO WE RECOGNIZE IT
The onset of the disease almost always occurs in the neonatal period, sometimes during the first year of life, rarely in the older child. Inappropriate insulin secretion is responsible for severe, sometimes uncontrollable, hypoglycemia. Hypoglycemic seizures are a typical presentation in the neonatal period, other symptoms may be hypotonia, lethargy, apnea, tremors, tachycardia, irritability. In later periods, fatigue, cold sweating, palpitations, tremors, sense of hunger, sensory disturbances are more frequent. Diagnostic confirmation requires inpatient evaluation and is based on well-defined criteria including the finding of hypoglycemia in the presence of measurable insulin values and the absence of ketones in the blood and urine and reduced values of free fatty acids. Diagnostic imaging (Fluoro Dopa PET-TC), which is indicated in forms not responsive to medical therapy, makes it possible to differentiate between diffuse and focal forms. In some cases, genetic analysis identifies the responsible genetic mutation and can provide useful information on clinical, histological characteristics, response to therapy and prognosis.
HOW DO WE TREAT IT
Emergency therapy is based on the correction of hypoglycemia by administering glucose solution intravenously. Long-term therapy is based on drugs that reduce insulin secretion (diazoxide, sandostatin, slow-release sandostatin) in combination with a diet often added with maltodextrin or complex sugars. The therapy aims to prevent brain damage and promote the child's normal psychomotor development, while maintaining the best possible quality of life. In the forms not responsive to medical therapy it is necessary surgical therapy.
WHAT DO WE DO IN OSPEDALE SAN RAFFAELE
Pediatric endocrinological evaluation, diagnostic imaging (Fluoro Dopa PET-CT) and genetic analysis , in order to formulate a correct diagnosis and set the correct therapy. Multidisciplinary management (pediatric endocrinology, possibly neurological, neuropsycological and surgical).
REFERRING DOCTORS for this deseaseat Ospedale San Raffaele
