Systematic Population Screening, Using Biomarkers and Genetic Testing, Identifies 2.5% of the U.K. Pediatric Diabetes Population With Monogenic Diabetes | Zendy

Maggie Shepherd | Zendy; Beverley M. Shields | Zendy; Suzanne Hammersley | Zendy; Michelle Hudson | Zendy; Timothy J. McDonald | Zendy; Kevin Colclough | Zendy; Richard A. Oram | Zendy; Bridget Knight | Zendy; Christopher Hyde | Zendy; Julian Cox | Zendy; Katherine Mallam | Zendy; Christopher Moudiotis | Zendy; Rebecca Smith | Zendy; Barbara Fraser | Zendy; Simon Robertson | Zendy; Stephen Greene | Zendy; Sian Ellard | Zendy; Ewan R. Pearson | Zendy; Andrew T. Hattersley | Zendy

Open Access

Systematic Population Screening, Using Biomarkers and Genetic Testing, Identifies 2.5% of the U.K. Pediatric Diabetes Population With Monogenic Diabetes

Author(s) -

Maggie Shepherd,

Beverley M. Shields,

Suzanne Hammersley,

Michelle Hudson,

Timothy J. McDonald,

Kevin Colclough,

Richard A. Oram,

Bridget Knight,

Christopher Hyde,

Julian Cox,

Katherine Mallam,

Christopher Moudiotis,

Rebecca Smith,

Barbara Fraser,

Simon Robertson,

Stephen Greene,

Sian Ellard,

Ewan R. Pearson,

Andrew T. Hattersley

Publication year - 2016

Publication title -

diabetes care

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 6.636

H-Index - 363

eISSN - 1935-5548

pISSN - 0149-5992

DOI - 10.2337/dc16-0645

Subject(s) - medicine , diabetes mellitus , hnf1a , population , type 1 diabetes , genetic testing , nephropathy , autoantibody , type 2 diabetes , hnf1b , insulin , pediatrics , endocrinology , immunology , genetics , antibody , gene , gene expression , environmental health , biology , homeobox

Monogenic diabetes is rare but is an important diagnosis in pediatric diabetes clinics. These patients are often not identified as this relies on the recognition of key clinical features by an alert clinician. Biomarkers (islet autoantibodies and C-peptide) can assist in the exclusion of patients with type 1 diabetes and allow systematic testing that does not rely on clinical recognition. Our study aimed to establish the prevalence of monogenic diabetes in U.K. pediatric clinics using a systematic approach of biomarker screening and targeted genetic testing.

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