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Pediatr Diabetes. 2008 Oct;9(5):450-9. doi: 10.1111/j.1399-5448.2008.00433.x. Epub 2008 Jul 25.

Diagnosis and treatment of neonatal diabetes: a United States experience.

Author information

1
Department of Medicine, The University of Chicago, Chicago, IL 60637, USA.

Abstract

BACKGROUND/OBJECTIVE:

Mutations in KCNJ11, ABCC8, or INS are the cause of permanent neonatal diabetes mellitus in about 50% of patients diagnosed with diabetes before 6 months of age and in a small fraction of those diagnosed between 6 and 12 months. The aim of this study was to identify the genetic cause of diabetes in 77 consecutive patients referred to the University of Chicago with diabetes diagnosed before 1 yr of age.

METHODS:

We used Oragene DNA Self-Collection kit to obtain a saliva sample for DNA. We sequenced the protein-coding regions of KCNJ11, ABCC8, and INS using standard methods.

RESULTS:

We enrolled 32 patients diagnosed with diabetes before 6 months of age and 45 patients diagnosed between 6 and 12 months. We identified a mutation in KCNJ11 in 14 patients from 12 families and in INS in 7 patients from 4 families. Three of the patients with an INS mutation were diagnosed with diabetes between 6 and 12 months of age. Finally, we found that two patients had an abnormality of chromosome 6q24 associated with transient neonatal diabetes mellitus.

CONCLUSIONS:

We were able to establish a genetic cause of diabetes in 63% of patients diagnosed with diabetes before 6 months of age and in 7% of patients diagnosed between 6 and 12 months. Genetic testing, which is critical for guiding appropriate management, should be considered in patients diagnosed with diabetes before 1 yr of age, especially if they are autoantibody negative, although the presence of autoantibodies does not rule out a monogenic cause.

PMID:
18662362
PMCID:
PMC2574846
DOI:
10.1111/j.1399-5448.2008.00433.x
[Indexed for MEDLINE]
Free PMC Article

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