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Identifying monogenic diabetes in a pediatric cohort with presumed type 1 diabetes
Author(s) -
Gandica Rachelle G.,
Chung Wendy K.,
Deng Liyong,
Goland Robin,
Gallagher Mary Pat
Publication year - 2015
Publication title -
pediatric diabetes
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.678
H-Index - 75
eISSN - 1399-5448
pISSN - 1399-543X
DOI - 10.1111/pedi.12150
Subject(s) - medicine , genetic testing , type 1 diabetes , cohort , glucokinase , diabetes mellitus , family history , pediatrics , retrospective cohort study , endocrinology
Objective Monogenic diabetes ( MD ) is rare and can often be confused with type 1 diabetes (T1D) in a pediatric cohort. We sought to determine clinical criteria that could optimally identify candidates for genetic testing of two common forms of MD that alter therapy: glucokinase ( GCK ) and hepatocyte nuclear factor 1 alpha ( HNF1α ).Research design and methods We performed a retrospective chart review of 939 patients with a presumed diagnosis of T1D , 6 months–20 yr of age, and identified four clinical criteria that were unusual for T1D and could warrant further evaluation for MD : (i) negative pancreatic autoantibodies, (ii) evidence of prolonged endogenous insulin production, or (iii) strong family history of diabetes in multiple generations. One hundred and twenty‐one patients were identified as having one or more of these high‐risk clinical criteria and were offered screening for mutations in GCK and HNF1α ; 58 consented for genetic testing. Results Of 58 patients with presumed T1D who underwent genetic testing, four were found to have GCK and one had HNF1α . No patients with only one high‐risk feature were found to have MD . Of 10 patients who had two or more high risk criteria, five had MD (50%). Conclusion A high frequency of MD from mutations in GCK / HNF1α may be identified among pediatric diabetic patients originally considered to have T1D by performing genetic testing on those patients with multiple clinical risk factors for MD .