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Permanent Neonatal Diabetes Mellitus: Prevalence and Genetic Diagnosis in the SEARCH for Diabetes in Youth Study
Filetype[PDF - 352.90 KB]


Details:
  • Corporate Authors:
    SEARCH for Diabetes in Youth Study Group
  • Pubmed ID:
    23050777
  • Pubmed Central ID:
    PMC4101463
  • Funding:
    098395/Wellcome Trust/United Kingdom
    1U18DP002709/DP/NCCDPHP CDC HHS/United States
    1UL1RR026314-01/RR/NCRR NIH HHS/United States
    DP-05-069/DP/NCCDPHP CDC HHS/United States
    DP-10-001/DP/NCCDPHP CDC HHS/United States
    M01 RR00069/RR/NCRR NIH HHS/United States
    M01RR00037/RR/NCRR NIH HHS/United States
    P30 DK57516/DK/NIDDK NIH HHS/United States
    U01 DP000244/DP/NCCDPHP CDC HHS/United States
    U01 DP000245/DP/NCCDPHP CDC HHS/United States
    U01 DP000246/DP/NCCDPHP CDC HHS/United States
    U01 DP000250/DP/NCCDPHP CDC HHS/United States
    U01 DP000254/DP/NCCDPHP CDC HHS/United States
    U01DP000247/DP/NCCDPHP CDC HHS/United States
    U01DP000248/DP/NCCDPHP CDC HHS/United States
    U18DP000247-06A1/DP/NCCDPHP CDC HHS/United States
    U18DP002708-01/DP/NCCDPHP CDC HHS/United States
    U18DP002710-01/DP/NCCDPHP CDC HHS/United States
    U18DP002714/DP/NCCDPHP CDC HHS/United States
    U48/CCU419249/PHS HHS/United States
    U48/CCU519239/PHS HHS/United States
    U48/CCU819241-3/PHS HHS/United States
    U48/CCU919219/PHS HHS/United States
    U58/CCU019235-4/PHS HHS/United States
    U58CCU919256/PHS HHS/United States
    UL1 TR000077/TR/NCATS NIH HHS/United States
    UL1 TR000423/TR/NCATS NIH HHS/United States
    UL1RR029882/RR/NCRR NIH HHS/United States
  • Document Type:
  • Collection(s):
  • Description:
    Background

    Neonatal diabetes mellitus (NDM) is defined as diabetes with onset before 6 months of age. Nearly half of individuals with NDM are affected by permanent neonatal diabetes mellitus (PNDM). Mutations in KATP channel genes (KCNJ11, ABCC8) and the insulin gene (INS) are the most common causes of PNDM.

    Objective

    To estimate the prevalence of PNDM among SEARCH for Diabetes in Youth (SEARCH) study participants (2001-2008) and to identify the genetic mutations causing PNDM.

    Methods

    SEARCH is a multi-center population-based study of diabetes in youth < 20 years of age. Participants diagnosed with diabetes before 6 months of age were invited for genetic testing for mutations in the KCNJ11, ABCC8 and INS genes.

    Results

    Of the 15,829 SEARCH participants with diabetes, 39 were diagnosed before 6 months of age. Thirty five of them had PNDM (0.22% of all diabetes cases in SEARCH), 3 had transient neonatal diabetes that had remitted by 18 months and one was unknown. The majority of them (66.7%) had a clinical diagnosis of type1 diabetes by their health care provider. Population prevalence of PNDM in youth <20 years was estimated at 1 in 252,000. Seven participants underwent genetic testing; mutations causing PNDM were identified in five (71%), (two KCNJ11, three INS).

    Conclusions

    We report the first population-based frequency of PNDM in the US based on the frequency of PNDM in SEARCH. Patients with NDM are often misclassified as having type1 diabetes. Widespread education is essential to encourage appropriate genetic testing and treatment of NDM.