期刊
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
卷 98, 期 10, 页码 4055-4062出版社
ENDOCRINE SOC
DOI: 10.1210/jc.2013-1279
关键词
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资金
- Centers for Disease Control and Prevention [PAs 00097, DP-05-069, DP-10-001]
- National Institute of Diabetes and Digestive and Kidney Diseases
- National Institutes of Health (NIH)/National Center for Research Resources [UL1RR029882]
- Children's Hospital and Regional Medical Center [M01RR00037]
- Colorado Pediatric General Clinical Research Center [M01 RR00069]
- Barbara Davis Center at the University of Colorado at Denver (DERC NIH) [P30 DK57516]
- NIH/National Center for Research Resources at the University of Cincinnati [1UL1RR026314-01]
- Juvenile Diabetes Research Foundation [JDRF 9-2007-1700]
- FP7 Integrated Project CEED3
- Madam Curie initial funding network Biology of Liver and Pancreas Development (BOLD)
- Kaiser Permanente Southern California [U48/CCU919219, U01 DP000246, U18DP002714]
- University of Colorado Denver [U48/CCU819241-3, U01 DP000247, U18DP000247-06A1]
- Kuakini Medical Center [U58CCU919256, U01 DP000245]
- Children's Hospital Medical Center (Cincinnati) [U48/CCU519239, U01 DP000248, 1U18DP002709]
- University of North Carolina at Chapel Hill [U48/CCU419249, U01 DP000254, U18DP002708-01]
- University of Washington School of Medicine [U58/CCU019235-4, U01 DP000244, U18DP002710-01]
- Wake Forest University School of Medicine [U48/CCU919219, U01 DP000250, 200-2010-35171]
- National Institute for Health Research [NF-SI-0611-10219] Funding Source: researchfish
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 maturity-onset diabetes of the young (MODY). Methods: The SEARCH for Diabetes in Youth study is a US multicenter, population-based study of youth with diabetes diagnosed at age younger than 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 of 0.8 ng/mL or greater. 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 3 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 vs 3.2 +/- 2.1 ng/mL, P < .01) and fewer type 2 diabetes-like metabolic features. Parental history of diabetes did not significantly differ between the 2 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. Although 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.
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