Persistent Hyperinsulinemic Hypoglycemia BT - Inborn Metabolic Diseases: Diagnosis and Treatment

Abstract

Persistent hyperinsulinemic hypoglycemia of infancy (PHHI) is the most important cause of hypoglycemia in early infancy. The inappropriate oversecretion of insulin is responsible for profound hypoglycemias, which require aggressive treatment to prevent severe and irreversible brain damage. A combination of glucose and glucagon is started as an emergency treatment as soon as a tentative diagnosis of PHHI is made. It is followed by treatment with diazoxide and other drugs and, finally, by pancreatectomy if the patient is drug resistant. PHHI is a heterogeneous disorder with two histopathological lesions, diffuse (DiPHHI) and focal (FoPHHI), which are clinically indistinguishable. FoPHHI is characterized by a somatic islet cell hyperplasia. DiPHHI corresponds to a functional abnormality of insulin secretion in the whole pancreas and involves several genes with different transmissions. The therapeutic outcome differs for both histological entities, as does genetic counseling.