Article Text

Download PDFPDF
Rare disease
Using highly sensitive C-reactive protein measurement to diagnose MODY in a family with suspected type 2 diabetes
  1. Rachel E J Besser1,
  2. Jackie Jones2,
  3. Timothy J McDonald1,3,
  4. Rebecca Smith4,
  5. Maggie H Shepherd1,
  6. Andrew T Hattersley1
  1. 1Peninsula NIHR Clinical Research Facility, Peninsula Medical School, Exeter, UK
  2. 2Community Clinic, Peninsula Community Health, Callington, UK
  3. 3Department of Clinical Biochemistry, Royal Devon & Exeter NHS Trust, Exeter, UK
  4. 4Department of Paediatrics, Derriford Hospital, Plymouth, UK
  1. Correspondence to Andrew T Hattersley, andrew.hattersley{at}pms.ac.uk

Summary

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.

Statistics from Altmetric.com

Footnotes

  • Competing interests None.

  • Patient consent Obtained.

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.