Neonatal diabetes in a child positive for islet cell antibodies at onset and Kir6.2 activating mutation

Agnieszka Gach; Krystyna Wyka; Iwona Pietrzak; Olga Wegner; Maciej T Malecki; Wojciech Mlynarski

doi:10.1016/j.diabres.2009.07.011

Neonatal diabetes in a child positive for islet cell antibodies at onset and Kir6.2 activating mutation

Diabetes Res Clin Pract. 2009 Nov;86(2):e25-7. doi: 10.1016/j.diabres.2009.07.011. Epub 2009 Aug 18.

Authors

Agnieszka Gach¹, Krystyna Wyka, Iwona Pietrzak, Olga Wegner, Maciej T Malecki, Wojciech Mlynarski

Affiliation

¹ Department of Immunopathology and Genetics, Medical University of Lodz, 91-738 Lodz, Poland.

PMID: 19692135
DOI: 10.1016/j.diabres.2009.07.011

Abstract

In contrast to the autoimmune type 1 diabetes, patients with monogenic diabetes due to KCNJ11 mutations do not have pancreatic auto-antibodies at onset. Here we describe a patient diagnosed at the age of 12 weeks that showed ICA at diagnosis, yet has been tested with positive result for KCNJ11 mutation.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Amino Acid Substitution
Autoantibodies / blood*
Autoantibodies / genetics
Diabetes Mellitus, Type 1 / genetics*
Diabetes Mellitus, Type 1 / immunology
Female
Humans
Infant
Infant, Newborn
Infant, Newborn, Diseases / genetics
Infant, Newborn, Diseases / immunology
Mutation*
Potassium Channels, Inwardly Rectifying / genetics*

Substances

Autoantibodies
Kir6.2 channel
Potassium Channels, Inwardly Rectifying
islet cell antibody