Noninsulinoma pancreatogenous hypoglycaemia in adults - a spotlight on its genetics

作者：Gilis Januszewska Aleksandra^*; Piatkowski Jakub; Skalniak Anna; Piwonska Solska Beata; Nazim Joanna; Pach Dorota; Przybylik Mazurek Elwira; Sowa Staszczak Anna; Starzyk Jerzy; Hubalewska Dydejczyk Alicja

来源：Endokrynologia Polska, 2015, 66(4): 344-354.

DOI：10.5603/EP.2015.0044

• nesidioblastosis
• hyperinsulinaemic hypoglycaemia
• genetics
• familial hyperinsulinism

Hyperinsulinaemic hypoglycaemia (HH) is also classically referred to as "nesidioblastosis". Heterogeneous clinical manifestation of the disease causes risk of late diagnosis or even misdiagnosis. In infants and children, it can lead to serious and permanent damage to the central nervous system, which leads to the manifesting mental retardation. HH is characterised by unregulated insulin secretion from pancreatic beta-cells. This effect has been correlated with nine genes: ABCC8, KCNJ11, GCK, GLUD-1, HADH1, SLC16A1, HNF4A, HNF1A, and UCP2. Mutations in these genes were found in approximately 48% of cases. The genetic background of the remaining cases is unknown. Understanding the genetic basis of familial hyperinsulinism has changed the early look at the disease. It has allowed for the differentiation of specific types of the disease. Depending on which of the nine disease-associated loci bears a pathogenic mutation, they differ in phenotype and pattern of inheritance. This review provides a brief overview of the genetic mechanisms of HH and its possible clinical presentations.

• 出版日期2015-9-1