Phänotypisierung von Patienten mit einer aktivierenden Mutation im Glucokinase-Gen (English shop)

Preview

Table of Contents, Datei (48 KB)
Extract, Datei (53 KB)

Hypoglycaemia is a frequently observed metabolic derangement and plays an important role particularly in the neonatal period. These neonatal hypoglycaemias may occur transiently or persist over a long period. They can have many different causes and may, among other things, be due to increased insulin secretion. If this increased insulin secretion is congenital, it is referred to as congenital hyperinsulinism, which is the most common cause of persistent hypoglycaemia in infancy and childhood and is also known by the English term “persistent hyperinsulinemic hypoglycemia of infancy” (PHHI). This work provides a brief overview of the various forms of congenital hyperinsulinism in newborns, also addressing the clinical presentation, diagnosis and treatment strategies of this disease.