Diagnosis and treatment of neonatal diabetes: an United States experience
J Støy, SAW Greeley, VP Paz, H Ye… - Pediatric …, 2008 - Wiley Online Library
Pediatric diabetes, 2008•Wiley Online Library
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 …
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 …
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.
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