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Diagnosis and treatment of neonatal diabetes: an United States experience †
Author(s) -
Støy Julie,
Greeley Siri Atma W,
Paz Veronica P,
Ye Honggang,
Pastore Ashley N,
Skowron Kinga B,
Lipton Rebecca B,
Cogen Fran R,
Bell Graeme I,
Philipson Louis H
Publication year - 2008
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/j.1399-5448.2008.00433.x
Subject(s) - medicine , diabetes mellitus , autoantibody , pediatrics , genetic testing , endocrinology , antibody , immunology
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.