Permanent Neonatal Diabetes Mellitus: Prevalence and Genetic Diagnosis in the SEARCH for Diabetes in Youth Study
Published Date:Oct 10 2012
Source:Pediatr Diabetes. 14(3):174-180.
Corporate Authors:SEARCH for Diabetes in Youth Study Group
Amino Acid Substitution
Genetic Association Studies
Potassium Channels, Inwardly Rectifying
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
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.
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.
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.
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).
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.
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