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

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

SUBMITTER: Gandica RG 

PROVIDER: S-EPMC4767163 | biostudies-literature | 2015 May

REPOSITORIES: biostudies-literature