Absence of Islet Autoantibodies and Modestly Raised Glucose Values at Diabetes Diagnosis Should Lead to Testing for MODY : Lessons From a 5-Year Pediatric Swedish National Cohort Study

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Carlsson , A , Shepherd , M , Ellard , S , Weedon , M , Lernmark , A , Forsander , G , Colclough , K , Brahimi , Q , Valtonen-Andre , C , Ivarsson , S A , Elding Larsson , H , Samuelsson , U , Ortqvist , E , Groop , L , Ludvigsson , J , Marcus , C & Hattersley , A T 2020 , ' Absence of Islet Autoantibodies and Modestly Raised Glucose Values at Diabetes Diagnosis Should Lead to Testing for MODY : Lessons From a 5-Year Pediatric Swedish National Cohort Study ' , Diabetes Care , vol. 43 , no. 1 , pp. 82-89 . https://doi.org/10.2337/dc19-0747

Title: Absence of Islet Autoantibodies and Modestly Raised Glucose Values at Diabetes Diagnosis Should Lead to Testing for MODY : Lessons From a 5-Year Pediatric Swedish National Cohort Study
Author: Carlsson, Annelie; Shepherd, Maggie; Ellard, Sian; Weedon, Michael; Lernmark, Ake; Forsander, Gun; Colclough, Kevin; Brahimi, Qefsere; Valtonen-Andre, Camilla; Ivarsson, Sten A.; Elding Larsson, Helena; Samuelsson, Ulf; Ortqvist, Eva; Groop, Leif; Ludvigsson, Johnny; Marcus, Claude; Hattersley, Andrew T.
Contributor: University of Helsinki, Centre of Excellence in Complex Disease Genetics
Date: 2020-01
Language: eng
Number of pages: 8
Belongs to series: Diabetes Care
ISSN: 0149-5992
URI: http://hdl.handle.net/10138/325540
Abstract: OBJECTIVE Identifying maturity-onset diabetes of the young (MODY) in pediatric populations close to diabetes diagnosis is difficult. Misdiagnosis and unnecessary insulin treatment are common. We aimed to identify the discriminatory clinical features at diabetes diagnosis of patients with glucokinase (GCK), hepatocyte nuclear factor-1A (HNF1A), and HNF4A MODY in the pediatric population. RESEARCH DESIGN AND METHODS Swedish patients (n = 3,933) aged 1-18 years, diagnosed with diabetes May 2005 to December 2010, were recruited from the national consecutive prospective cohort Better Diabetes Diagnosis. Clinical data, islet autoantibodies (GAD insulinoma antigen-2, zinc transporter 8, and insulin autoantibodies), HLA type, and C-peptide were collected at diagnosis. MODY was identified by sequencing GCK, HNF1A, and HNF4A, through either routine clinical or research testing. RESULTS The minimal prevalence of MODY was 1.2%. Discriminatory factors for MODY at diagnosis included four islet autoantibody negativity (100% vs. 11% not-known MODY; P = 2 x 10(-44)), HbA(1c) (7.0% vs. 10.7% [53 vs. 93 mmol/mol]; P = 1 x 10(-20)), plasma glucose (11.7 vs. 26.7 mmol/L; P = 3 x 10(-19)), parental diabetes (63% vs. 12%; P = 1 x 10(-15)), and diabetic ketoacidosis (0% vs. 15%; P = 0.001). Testing 303 autoantibody-negative patients identified 46 patients with MODY (detection rate 15%). Limiting testing to the 73 islet autoantibody-negative patients with HbA(1c)
Subject: CHILDREN
YOUNG
CLASSIFICATION
ASSOCIATION
POPULATION
PREVALENCE
MUTATIONS
VARIANTS
GENETICS
RISK
3121 Internal medicine
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