<i>ABCC8</i> and <i>KCNJ11</i> molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism

Abstract

The identification of recessively inherited mutations related to severe and diffuse forms of CHI provides an informative genetic diagnosis and allows prenatal diagnosis. In contrast, in patients carrying a single K(ATP) channel mutation, genetic analysis should be confronted with the PET imaging to categorise patients as focal or diffuse forms in order to get the appropriate therapeutic management.