Neonatal diabetes in a child positive for islet cell antibodies at onset and Kir6.2 activating mutation.
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.
Gach
Agnieszka
A
Department of Immunopathology and Genetics, Medical University of Lodz, 91-738 Lodz, Poland.
Wyka
Krystyna
K
Pietrzak
Iwona
I
Wegner
Olga
O
Malecki
Maciej T
MT
Mlynarski
Wojciech
W
D019943:Amino Acid Substitution; D001323:Autoantibodies / Q000097:blood* / Q000235:genetics; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics* / Q000276:immunology; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000235:genetics / Q000276:immunology; D009154:Mutation; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D000099161:Kcnj11 Channel
D001323:Autoantibodies; D024661:Potassium Channels, Inwardly Rectifying; D000099161:Kcnj11 Channel; C024211:islet cell antibody