Arya, VB;
Rahman, S;
Senniappan, S;
Flanagan, SE;
Ellard, S;
Hussain, K;
(2014)
HNF4A mutation: switch from hyperinsulinaemic hypoglycaemia to maturity-onset diabetes of the young, and incretin response.
Diabet Med
, 31
(3)
e11-e15.
10.1111/dme.12369.
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Abstract
Hepatocyte nuclear factor 4α (HNF4A) is a member of the nuclear receptor family of ligand-activated transcription factors. HNF4A mutations cause hyperinsulinaemic hypoglycaemia in early life and maturity-onset diabetes of the young. Regular screening of HNF4A mutation carriers using the oral glucose tolerance test has been recommended to diagnose diabetes mellitus at an early stage. Glucagon-like peptide-1 and glucose-dependent insulinotropic polypeptide are incretin hormones, responsible for up to 70% of the secreted insulin after a meal in healthy individuals. We describe, for the first time, gradual alteration of glucose homeostasis in a patient with HNF4A mutation after resolution of hyperinsulinaemic hypoglycaemia, on serial oral glucose tolerance testing. We also measured the incretin response to a mixed meal in our patient.
| Type: | Article |
|---|---|
| Title: | HNF4A mutation: switch from hyperinsulinaemic hypoglycaemia to maturity-onset diabetes of the young, and incretin response. |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1111/dme.12369 |
| Publisher version: | http://dx.doi.org/10.1111/dme.12369 |
| Additional information: | © 2013 The Authors. Diabetic Medicine © 2013 Diabetes UK. Full text made available to UCL Discovery by kind permission of Wiley. |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/1425047 |
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