open access

Vol 66, No 4 (2015)
Review article
Published online: 2015-09-01
Submitted: 2014-08-14
Accepted: 2014-10-16
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Noninsulinoma pancreatogenous hypoglycaemia in adults — a spotlight on its genetics

Aleksandra Gilis-Januszewska, Jakub Piątkowski, Anna Skalniak, Beata Piwońska-Solska, Joanna Nazim, Dorota Pach, Elwira Przybylik-Mazurek, Anna Sowa-Staszczak, Jerzy Starzyk, Alicja Hubalewska-Dydejczyk
DOI: 10.5603/EP.2015.0044
·
Endokrynologia Polska 2015;66(4):344-354.

open access

Vol 66, No 4 (2015)
Review article
Published online: 2015-09-01
Submitted: 2014-08-14
Accepted: 2014-10-16

Abstract

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 β-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. (Endokrynol Pol 2015; 66 (4): 344–354)

Abstract

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 β-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. (Endokrynol Pol 2015; 66 (4): 344–354)

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Keywords

nesidioblastosis; hyperinsulinemic hypoglycemia; genetics; familial hyperinsulinism

About this article
Title

Noninsulinoma pancreatogenous hypoglycaemia in adults — a spotlight on its genetics

Journal

Endokrynologia Polska

Issue

Vol 66, No 4 (2015)

Pages

344-354

Published online

2015-09-01

DOI

10.5603/EP.2015.0044

Bibliographic record

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

Keywords

nesidioblastosis
hyperinsulinemic hypoglycemia
genetics
familial hyperinsulinism

Authors

Aleksandra Gilis-Januszewska
Jakub Piątkowski
Anna Skalniak
Beata Piwońska-Solska
Joanna Nazim
Dorota Pach
Elwira Przybylik-Mazurek
Anna Sowa-Staszczak
Jerzy Starzyk
Alicja Hubalewska-Dydejczyk

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