Monogenic diabetes and type 1 diabetes mellitus: a challenging combination

2.50
Hdl Handle:
http://hdl.handle.net/11287/618066
Title:
Monogenic diabetes and type 1 diabetes mellitus: a challenging combination
Authors:
Uday, S.; Campbell, F. M.; Cropper, J.; Shepherd, Maggie ( 0000-0003-2660-0955 )
Abstract:
The co-existence of maturity onset diabetes of the young (MODY) due to a glucokinase gene (GCK) mutation and type 1 diabetes mellitus (T1DM) is rarely diagnosed. We present a family with GCK mutation, where one member also has T1DM. We highlight the challenges faced in the management of a child with dual diagnosis, due to the higher threshold for activation of counter-regulatory hormones in GCK mutations. Fluctuations in blood glucose (BG) levels and significant hypoglycaemia on attempts at normalising BG levels complicate management in these patients. Resetting the threshold for hypoglycaemia and target BG, combined with insulin pump therapy, enabled us to significantly reduce hypoglycaemia and improve quality of life. The population prevalence of GCK-MODY is 1.1 in 1000. T1DM neither predisposes to nor protects from GCK-MODY; one would therefore expect the prevalence of GCK-MODY to be the same in T1DM patients. In conclusion, it is important to recognise the co-existence of T1DM and GCK-MODY as symptoms of hypoglycaemia at BG levels usually considered ‘within target’ pose management challenges. A combined diagnosis warrants careful consideration of BG target.
Citation:
Monogenic diabetes and type 1 diabetes mellitus: a challenging combination 2014, 31 (8):327 Practical Diabetes
Publisher:
Wiley
Journal:
Practical Diabetes
Issue Date:
9-Aug-2016
URI:
http://hdl.handle.net/11287/618066
DOI:
10.1002/pdi.1896
Additional Links:
http://doi.wiley.com/10.1002/pdi.1896
Type:
Journal Article
Language:
en
ISSN:
20472897
Appears in Collections:
2014 RD&E publications; Diabetes/Endocrine Services; Research & Development staff

Full metadata record

DC FieldValue Language
dc.contributor.authorUday, S.en
dc.contributor.authorCampbell, F. M.en
dc.contributor.authorCropper, J.en
dc.contributor.authorShepherd, Maggieen
dc.date.accessioned2016-08-09T09:05:59Z-
dc.date.available2016-08-09T09:05:59Z-
dc.date.issued2016-08-09-
dc.identifier.citationMonogenic diabetes and type 1 diabetes mellitus: a challenging combination 2014, 31 (8):327 Practical Diabetesen
dc.identifier.issn20472897-
dc.identifier.doi10.1002/pdi.1896-
dc.identifier.urihttp://hdl.handle.net/11287/618066-
dc.description.abstractThe co-existence of maturity onset diabetes of the young (MODY) due to a glucokinase gene (GCK) mutation and type 1 diabetes mellitus (T1DM) is rarely diagnosed. We present a family with GCK mutation, where one member also has T1DM. We highlight the challenges faced in the management of a child with dual diagnosis, due to the higher threshold for activation of counter-regulatory hormones in GCK mutations. Fluctuations in blood glucose (BG) levels and significant hypoglycaemia on attempts at normalising BG levels complicate management in these patients. Resetting the threshold for hypoglycaemia and target BG, combined with insulin pump therapy, enabled us to significantly reduce hypoglycaemia and improve quality of life. The population prevalence of GCK-MODY is 1.1 in 1000. T1DM neither predisposes to nor protects from GCK-MODY; one would therefore expect the prevalence of GCK-MODY to be the same in T1DM patients. In conclusion, it is important to recognise the co-existence of T1DM and GCK-MODY as symptoms of hypoglycaemia at BG levels usually considered ‘within target’ pose management challenges. A combined diagnosis warrants careful consideration of BG target.en
dc.language.isoenen
dc.publisherWileyen
dc.relation.urlhttp://doi.wiley.com/10.1002/pdi.1896en
dc.rightsArchived with thanks to Practical Diabetesen
dc.subjectWessex Classification Subject Headings::Endocrinology::Diabetesen
dc.titleMonogenic diabetes and type 1 diabetes mellitus: a challenging combinationen
dc.typeJournal Articleen
dc.identifier.journalPractical Diabetesen
dc.type.versionPublisheden
dc.contributor.institutionLeeds Children's Hospital; Leeds UK-
dc.contributor.institutionLeeds Children's Hospital, St James's Multi-specialty Day Hospital; Leeds UK-
dc.contributor.institutionLeeds Children's Hospital, St James's Multi-specialty Day Hospital; Leeds UK-
dc.contributor.institutionUniversity of Exeter Medical School and Royal Devon and Exeter NHS Foundation Trust; Exeter Devon UK-
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