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Pediatr Diabetes. 2015 May;16(3):227-33. doi: 10.1111/pedi.12150. Epub 2014 Aug 1.

Identifying monogenic diabetes in a pediatric cohort with presumed type 1 diabetes.

Author information

1
Division of Pediatric Endocrinology, Diabetes, and Metabolism, Columbia University Medical Center, New York, NY 10032, USA.

Abstract

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.

KEYWORDS:

MODY; diabetes mellitus type 1; genetic testing; pediatrics

PMID:
25082184
PMCID:
PMC4767163
DOI:
10.1111/pedi.12150
[Indexed for MEDLINE]
Free PMC Article

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