lunes, 1 de julio de 2013

Prevalence, Characteristics and Clin... [J Clin Endocrinol Metab. 2013] - PubMed - NCBI

Prevalence, Characteristics and Clin... [J Clin Endocrinol Metab. 2013] - PubMed - NCBI

J Clin Endocrinol Metab. 2013 Jun 14. [Epub ahead of print]

Prevalence, Characteristics and Clinical Diagnosis of Maturity Onset Diabetes of the Young Due to Mutations in HNF1A, HNF4A, and Glucokinase: Results from the SEARCH for Diabetes in Youth.


Departments of Medicine (L.K.G., S.M.M.) and Pediatrics (C.P.), University of Washington, Seattle, WA; the Institute of Biomedical and Clinical Science, Peninsula Medical School, University of Exeter, Exeter, U.K. (S.E., A.T.H.); the Department of Epidemiology, CO School of Public Health (D.D.), and the Barbara Davis Center for Childhood Diabetes (A.K.S.), University of Colorado Denver, Aurora, CO; the Department of Biostatistical Sciences, Wake Forest University Health Sciences, Winston-Salem, NC (C.D.); the Department of Pediatrics, Cincinnati Children's Hospital, University of Cincinnati College of Medicine, Cincinnati, OH (L.M.D.); Diabetes Research Program, Benaroya Research Institute, Seattle, WA (C.J.G.); the Division of Diabetes Translation, Centers for Disease Control and Prevention, Atlanta, GA (G.I., D.E.W.); the Department of Research & Evaluation, Kaiser Permanente Southern California, Pasadena, CA (J.M.L.); Department of Nutrition, UNC Gillings School of Global Public Health, Chapel Hill, NC (E.M.-D.); and Kuakini Medical Center, Honolulu, HI (B.L.R.).


Aims:Our study aims were to determine the frequency of MODY mutations (HNF1A, HNF4A, Glucokinase) in a diverse population of youth with diabetes and to assess how well clinical features identify youth with MODY.Methods:The SEARCH for Diabetes in Youth study is a US multicenter, population-based study of youth with diabetes diagnosed at < 20 years. We sequenced genomic DNA for mutations in the HNF1A, HNF4A, and glucokinase genes in 586 participants enrolled in SEARCH between 2001 and 2006. Selection criteria included diabetes autoantibody negativity and fasting C-peptide levels ≥ 0.8 ng/ml.Results:We identified a mutation in one of three MODY genes in 47 participants, or 8.0% of the tested sample, for a prevalence of at least 1.2% in the pediatric diabetes population. Of these, only three had a clinical diagnosis of MODY, and the majority was treated with insulin. Compared with the MODY-negative group, MODY-positive participants had lower FCP levels (2.2±1.4 ng/ml vs. 3.2±2.1 ng/ml, p< 0.01) and fewer type 2 diabetes-like metabolic features. Parental history of diabetes did not significantly differ between the two groups.Conclusions/Interpretation:In this systematic study of MODY in a large pediatric US diabetes cohort, unselected by referral pattern or family history, MODY was usually misdiagnosed and incorrectly treated with insulin. While many type 2 diabetes-like metabolic features were less common in the mutation-positive group, no single characteristic identified all patients with mutations. Clinicians should be alert to the possibility of MODY diagnosis, particularly in antibody negative youth with diabetes.
[PubMed - as supplied by publisher]

No hay comentarios:

Publicar un comentario