Using highly sensitive C-reactive protein measurement to diagnose MODY in a family with suspected type 2 diabetes.

2.50
Hdl Handle:
http://hdl.handle.net/11287/619103
Title:
Using highly sensitive C-reactive protein measurement to diagnose MODY in a family with suspected type 2 diabetes.
Authors:
Besser, R.; Jones, J.; McDonald, Timothy J. ( 0000-0003-3559-6660 ) ; Smith, Rebecca; Shepherd, Maggie ( 0000-0003-2660-0955 ) ; Hattersley, Andrew T.
Abstract:
The authors report an adolescent who was found to have diabetes on routine blood testing. The initial diagnosis was type 2 diabetes because she was obese, did not have type 1 diabetes antibodies and both parents had diabetes. Highly sensitive C-reactive protein (hsCRP) was low in the proband and her father (≤0.1 mg/l) indicating that type 2 diabetes was unlikely, and that hepatocyte nuclear factor 1-α-maturity onset diabetes of the young (HNF1A-MODY) was the most likely diagnosis. Following a genetic diagnosis of HNF1A-MODY in the proband and her father, both patients were treated with gliclazide, with improvement in HbA1c. This case highlights the challenges of making a correct diagnosis of MODY in young onset diabetes. The authors report the first case where hsCRP, an easily available biomarker, has been used on an individual level to determine appropriate genetic testing of MODY in a family whose main differential diagnosis was familial type 2 diabetes.
Citation:
Using highly sensitive C-reactive protein measurement to diagnose MODY in a family with suspected type 2 diabetes. 2012, 2012: BMJ Case Rep
Publisher:
BMJ
Journal:
BMJ case reports
Issue Date:
2012
URI:
http://hdl.handle.net/11287/619103
DOI:
10.1136/bcr.01.2012.5612
PubMed ID:
22787179
Additional Links:
http://casereports.bmj.com/content/2012/bcr.01.2012.5612.long
Note:
RD&E staff can access the full-text of this article via OpenAthens. Click on the 'Additional Link' above to access the full-text and log in with NHS OpenAthens if prompted.
Type:
Case Report
Language:
en
ISSN:
1757-790X
Appears in Collections:
pre-2014 RD&E publications; Diabetes/Endocrine Services; Honorary contracts publications; Honorary contracts publications

Full metadata record

DC FieldValue Language
dc.contributor.authorBesser, R.en
dc.contributor.authorJones, J.en
dc.contributor.authorMcDonald, Timothy J.en
dc.contributor.authorSmith, Rebeccaen
dc.contributor.authorShepherd, Maggieen
dc.contributor.authorHattersley, Andrew T.en
dc.date.accessioned2016-08-31T10:34:19Z-
dc.date.available2016-08-31T10:34:19Z-
dc.date.issued2012-
dc.identifier.citationUsing highly sensitive C-reactive protein measurement to diagnose MODY in a family with suspected type 2 diabetes. 2012, 2012: BMJ Case Repen
dc.identifier.issn1757-790X-
dc.identifier.pmid22787179-
dc.identifier.doi10.1136/bcr.01.2012.5612-
dc.identifier.urihttp://hdl.handle.net/11287/619103-
dc.description.abstractThe authors report an adolescent who was found to have diabetes on routine blood testing. The initial diagnosis was type 2 diabetes because she was obese, did not have type 1 diabetes antibodies and both parents had diabetes. Highly sensitive C-reactive protein (hsCRP) was low in the proband and her father (≤0.1 mg/l) indicating that type 2 diabetes was unlikely, and that hepatocyte nuclear factor 1-α-maturity onset diabetes of the young (HNF1A-MODY) was the most likely diagnosis. Following a genetic diagnosis of HNF1A-MODY in the proband and her father, both patients were treated with gliclazide, with improvement in HbA1c. This case highlights the challenges of making a correct diagnosis of MODY in young onset diabetes. The authors report the first case where hsCRP, an easily available biomarker, has been used on an individual level to determine appropriate genetic testing of MODY in a family whose main differential diagnosis was familial type 2 diabetes.en
dc.language.isoenen
dc.publisherBMJen
dc.relation.urlhttp://casereports.bmj.com/content/2012/bcr.01.2012.5612.longen
dc.rightsArchived with thanks to BMJ case reportsen
dc.subjectWessex Classification Subject Headings::Endocrinology::Diabetesen
dc.titleUsing highly sensitive C-reactive protein measurement to diagnose MODY in a family with suspected type 2 diabetes.en
dc.typeCase Reporten
dc.identifier.journalBMJ case reportsen
dc.description.noteRD&E staff can access the full-text of this article via OpenAthens. Click on the 'Additional Link' above to access the full-text and log in with NHS OpenAthens if prompted.en
dc.description.fundingPDA/02/06/098/Department of Health/United Kingdomen
dc.type.versionPublisheden

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