Identification of GCK-MODY in cases of neonatal hyperglycemia: a case series and review of clinical features.
dc.contributor.author | Hughes, AE | |
dc.contributor.author | De Franco, E | |
dc.contributor.author | Globa, E | |
dc.contributor.author | Zelinska, N | |
dc.contributor.author | Hilgard, D | |
dc.contributor.author | Sifianou, P | |
dc.contributor.author | Hattersley, AT | |
dc.contributor.author | Flanagan, SE | |
dc.date.accessioned | 2021-06-23T14:23:05Z | |
dc.date.issued | 2021-06-04 | |
dc.description.abstract | Heterozygous mutations in GCK result in a persistent, mildly raised glucose from birth, but it is usually diagnosed in adulthood as maturity-onset diabetes of the young (MODY), where hyperglycemia is often an incidental finding. The hyperglycemia of GCK-MODY is benign and does not require treatment, but is important to be aware of, particularly in females where it has implications for managing pregnancy. We present three cases of neonatal hyperglycemia resulting from a heterozygous mutation in GCK, illustrating its clinical presentation and evolution in early life. In summary, as with adults, neonatal hyperglycemia is an incidental finding, does not require treatment and has no adverse consequences for health. Neonates and their parents should be referred for genetic testing to confirm the diagnosis, avoid a label of diabetes and enable pregnancy counselling for females found to be affected. This article is protected by copyright. All rights reserved. | en_GB |
dc.description.sponsorship | Royal Society | en_GB |
dc.description.sponsorship | National Institute of Health Research (NIHR) | en_GB |
dc.description.sponsorship | Diabetes UK | en_GB |
dc.description.sponsorship | Wellcome Trust | en_GB |
dc.identifier.citation | Published 4 June 2021 | en_GB |
dc.identifier.doi | 10.1111/pedi.13239 | |
dc.identifier.grantnumber | 105636/Z/14/Z | en_GB |
dc.identifier.uri | http://hdl.handle.net/10871/126160 | |
dc.language.iso | en | en_GB |
dc.publisher | Wiley / International Society for Pediatric and Adolescent Diabetes | en_GB |
dc.relation.url | https://www.ncbi.nlm.nih.gov/pubmed/34085361 | en_GB |
dc.rights | © 2021 The Authors. Pediatric Diabetes published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. | en_GB |
dc.subject | GCK-MODY | en_GB |
dc.subject | Glucokinase | en_GB |
dc.subject | hyperglycemia | en_GB |
dc.subject | monogenic diabetes of the young | en_GB |
dc.subject | neonatal diabetes | en_GB |
dc.title | Identification of GCK-MODY in cases of neonatal hyperglycemia: a case series and review of clinical features. | en_GB |
dc.type | Article | en_GB |
dc.date.available | 2021-06-23T14:23:05Z | |
dc.identifier.issn | 1399-543X | |
exeter.place-of-publication | Denmark | en_GB |
dc.description | This is the final version. Available on open access from Wiley via the DOI in this record | en_GB |
dc.description | Data availability statement: The data that supports this work is not freely available due to its identifiable nature, but reasonable requests for additional data can be made to the corresponding author. | en_GB |
dc.identifier.eissn | 1399-5448 | |
dc.identifier.journal | Pediatric Diabetes | en_GB |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0/ | en_GB |
dcterms.dateAccepted | 2021-05-24 | |
rioxxterms.version | VoR | en_GB |
rioxxterms.licenseref.startdate | 2021-06-04 | |
rioxxterms.type | Journal Article/Review | en_GB |
refterms.dateFCD | 2021-06-23T14:11:50Z | |
refterms.versionFCD | VoR | |
refterms.dateFOA | 2021-06-23T14:23:18Z | |
refterms.panel | A | en_GB |
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Except where otherwise noted, this item's licence is described as © 2021 The Authors. Pediatric Diabetes published by John Wiley & Sons Ltd.
This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.