Literature DB >> 22787179

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

Rachel E J Besser1, Jackie Jones, Timothy J McDonald, Rebecca Smith, Maggie H Shepherd, Andrew T Hattersley.   

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.

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Year:  2012        PMID: 22787179      PMCID: PMC3416990          DOI: 10.1136/bcr.01.2012.5612

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  20 in total

1.  Altered insulin secretory responses to glucose in subjects with a mutation in the MODY1 gene on chromosome 20.

Authors:  M M Byrne; J Sturis; S S Fajans; F J Ortiz; A Stoltz; M Stoffel; M J Smith; G I Bell; J B Halter; K S Polonsky
Journal:  Diabetes       Date:  1995-06       Impact factor: 9.461

2.  Mild familial diabetes with dominant inheritance.

Authors:  R B Tattersall
Journal:  Q J Med       Date:  1974-04

3.  Genetic, autoimmune, and clinical characteristics of childhood- and adult-onset type 1 diabetes.

Authors:  E Sabbah; K Savola; T Ebeling; P Kulmala; P Vähäsalo; J Ilonen; P I Salmela; M Knip
Journal:  Diabetes Care       Date:  2000-09       Impact factor: 19.112

4.  Altered insulin secretory responses to glucose in diabetic and nondiabetic subjects with mutations in the diabetes susceptibility gene MODY3 on chromosome 12.

Authors:  M M Byrne; J Sturis; S Menzel; K Yamagata; S S Fajans; M J Dronsfield; S C Bain; A T Hattersley; G Velho; P Froguel; G I Bell; K S Polonsky
Journal:  Diabetes       Date:  1996-11       Impact factor: 9.461

5.  Type II diabetes of early onset: a distinct clinical and genetic syndrome?

Authors:  S O'Rahilly; R S Spivey; R R Holman; Z Nugent; A Clark; R C Turner
Journal:  Br Med J (Clin Res Ed)       Date:  1987-04-11

6.  The epidemiology of diabetes in Swedish children 0-14 years--a six-year prospective study.

Authors:  G Dahlquist; L Blom; G Holmgren; B Hägglöf; Y Larsson; G Sterky; S Wall
Journal:  Diabetologia       Date:  1985-11       Impact factor: 10.122

7.  C-peptide is the appropriate outcome measure for type 1 diabetes clinical trials to preserve beta-cell function: report of an ADA workshop, 21-22 October 2001.

Authors:  Jerry P Palmer; G Alexander Fleming; Carla J Greenbaum; Kevan C Herold; Lisa D Jansa; Hubert Kolb; John M Lachin; Kenneth S Polonsky; Paolo Pozzilli; Jay S Skyler; Michael W Steffes
Journal:  Diabetes       Date:  2004-01       Impact factor: 9.461

8.  Synergistic trans-activation of the human C-reactive protein promoter by transcription factor HNF-1 binding at two distinct sites.

Authors:  C Toniatti; A Demartis; P Monaci; A Nicosia; G Ciliberto
Journal:  EMBO J       Date:  1990-12       Impact factor: 11.598

9.  A large multi-centre European study validates high-sensitivity C-reactive protein (hsCRP) as a clinical biomarker for the diagnosis of diabetes subtypes.

Authors:  G Thanabalasingham; N Shah; M Vaxillaire; T Hansen; T Tuomi; D Gašperíková; M Szopa; E Tjora; T J James; P Kokko; F Loiseleur; E Andersson; S Gaget; B Isomaa; N Nowak; H Raeder; J Stanik; P R Njolstad; M T Malecki; I Klimes; L Groop; O Pedersen; P Froguel; M I McCarthy; A L Gloyn; K R Owen
Journal:  Diabetologia       Date:  2011-08-04       Impact factor: 10.122

10.  Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene.

Authors:  Ewan R Pearson; Sylvia F Boj; Anna M Steele; Timothy Barrett; Karen Stals; Julian P Shield; Sian Ellard; Jorge Ferrer; Andrew T Hattersley
Journal:  PLoS Med       Date:  2007-04       Impact factor: 11.069

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  1 in total

1.  Genome-wide association study of high-sensitivity C-reactive protein, D-dimer, and interleukin-6 levels in multiethnic HIV+ cohorts.

Authors:  Brad T Sherman; Xiaojun Hu; Kanal Singh; Lillian Haine; Adam W Rupert; James D Neaton; Jens D Lundgren; Tomozumi Imamichi; Weizhong Chang; H Clifford Lane
Journal:  AIDS       Date:  2021-02-02       Impact factor: 4.632

  1 in total

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