The Type and the Position of HNF1A Mutation Modulate Age at Diagnosis of Diabetes in Patients with Maturity-Onset Diabetes of the Young (MODY)-3

OBJECTIVE—The clinical expression of maturity-onset diabetes of the young (MODY)-3 is highly variable. This may be due to environmental and/or genetic factors, including molecular characteristics of the hepatocyte nuclear factor 1-α (HNF1A) gene mutation. RESEARCH DESIGN AND METHODS—We analyzed the mutations identified in 356 unrelated MODY3 patients, including 118 novel mutations, and searched for correlations between the genotype and age at diagnosis of diabetes. RESULTS—Missense mutations prevailed in the dimerization and DNA-binding domains (74%), while truncating mutations were predominant in the transactivation domain (62%). The majority (83%) of the mutations were located in exons 1- 6, thus affecting the three HNF1A isoforms. Age at diagnosis of diabetes was lower in patients with truncating mutations than in those with missense mutations (18 vs. 22 years, P = 0.005). Missense mutations affecting the dimerization/DNA-binding domains were associated with a lower age at diagnosis than those affecting the transactivation domain (20 vs. 30 years, P = 10−4). Patients with missense mutations affecting the three isoforms were younger at diagnosis than those with missense mutations involving one or two isoforms (P = 0.03). CONCLUSIONS—These data show that part of the variability of the clinical expression in MODY3 patients may be explained by the type and the location of HNF1A mutations. These findings should be considered in studies for the search of additional modifier genetic factors

La décision médicale partagée

Avant de partir dans des considérations théoriques, il est crucial de réaliser que le patient vit 129 600 minutes avec sa maladie pendant 3 mois, alors que nous ne le voyons que 30 minutes! Après avoir intégré ce constat, et devant une telle obligation de décider ensemble, prenons l'équation à trois composantes décrites par Darmon et al

ENTRED 2007: Results of a French national survey on self-management education to people with diabetes... still a long way to go!

Introduction: Over the past decade, self-management education has emerged as an important priority in France. Under the term "therapeutic patient education", it has become compulsory for health care settings willing to implement self-management education programmes to be authorized according to national quality criteria and accreditation standards. Objectives: Our article summarizes data from a French national survey-ENTRED 2007-which aimed to assess to what extent self-management education was perceived by diabetic patients and their physicians to be part of the routine care to diabetic patients in France. Methods: Our study included a representative sample of 4,120 diabetic patients (of which 3,847 patients with type 2 diabetes and 273 patients with type 1 diabetes), as well as 2,392 physicians (of which 80% in primary care and 20% in specialised care). Results/Discussion: Our results show that despite incentives in relation to the preparation of the legal framework, there was still a lack of systematic implementation of self-management education as part of the routine medical care provided to patients with diabetes in 2007 in France. Moreover, we have evidenced discrepancies between patients' and physicians' perceptions regarding impact of diabetes on the patients' quality of life, performance of self-management tasks by patients, and patients' participation in decision-making processes. Such discrepancies call for sustained efforts to motivate and train healthcare providers to implement patient-centred self-management support interventions. © 2014 EDP Sciences, SETE