Дифференциальная диагностика гипогликемий, развившихся на фоне врожденного гиперинсулинизма

Abstract

Congenital hyperinsulinism (CHI) is a genetic disorder characterized by inappropriate insulin secretion by pancreatic b-cells. CHI may induce the development of severe hypoglycemic conditions already in the neonatal period. The causes of neonatal hypoglycemia are diverse; therefore, an accurate algorithm is needed for diagnosis and differential diagnosis of pathological conditions accompanied by hypoglycemia. One of the causes of low blood glucose levels is hyperinsulinism, both exogenous (administration of insulin or its stimulants) and endogenous (autonomous insulin secretion, disorders of the propulsive or endocrine function of the gastrointestinal tract). An increase in insulin levels in the blood due to hypoketonemia is one of the common signs of this condition. In etiopathogenesis, transient and persistent hyperinsulinism are distinguished. The latter is represented by monogenic (genetic defects in insulin secretion) and syndromic (associated with other hereditary diseases) forms. This article presents data on the characteristics of insulin metabolism, possible causes of CHI, and discusses the algorithm for differential diagnosis of neonatal hypoglycemia for timely detection of CHI. Key words: congenital hyperinsulinism, neonatal hypoglycemia, hyperinsulinism-hyperammonemia syndrome, Sotos syndrome, Beckwith–Wiedemann syndrome, Kabuki syndrome, Costello syndrome, congenital disorders of glycosylation