Congenital Hyperinsulinism

Zusammenfassung

Congenital hyperinsulinism (CHI) includes all genetic causes leading to hyperinsulinaemic hypoglycaemia (HI) that are due to a primary defect of the pancreatic β-cell (7 Box). CHI can present throughout childhood but is most common in infancy. Severe CHI is responsible for recurrent severe hypoglycaemia in neonates, in whom a delayed diagnosis or inappropriate medical management is responsible for brain damage in about 1/3, underlining the importance of an early diagnosis and the use of glucagon. Most CHI patients are responsive to a first line oral treatment with diazoxide. If unresponsive, subcutaneous/intramuscular treatment with somatostatin analogues and/or frequent/continuous feeds, may be required with further exploration necessary to determine the histopathological form of the CHI. Two main histopathological variants of CHI exist: a diffuse form, where all the β-cells throughout the pancreas are involved, and a focal form, where hypersecreting β-cells are restricted to a small region of the pancreas.Focal forms can also be immediately and definitively cured by partial pancreatectomy, whereas alternative strategies for diffuse forms include subtotal pancreatectomy (leading to insulin-dependent diabetes in most cases) or onerous medical treatment for several years. The severity of CHI improves within a few years, allowing a progressive discontinuation of all therapies. This being the case and since surgery has not been proven to improve the long-term neurologic outcome of patients, several new medical treatments are in the process of being developedin order to ease the burden of conservative medical treatment and to limit the need for subtotal pancreatectomy.