Hyperglycaemia and β-cell antibodies: is it always pre-type 1 diabetes?
We describe 10-year-old girl with mild incidental hyperglycaemia, impaired glucose tolerance and GADA positivity. Family history for mild hyperglycaemia and GADA fluctuation alerted us to a possible MODY diagnosis which was confirmed by detection of GCK mutation c.626C>T; p.T209M. Weak or transient β-cell autoimmunity should not preclude genetic testing for MODY when the clinical features are suggestive.
Pediatric Clinic, IRCCS Giannina Gaslini Institute, Genoa, Italy. giuseppedannunzio@ospedale-gaslini.ge.it
Giuseppe
G
d'Annunzio
Marta
M
Marchi
Concetta
C
Aloi
Alessandro
A
Salina
Francesca
F
Lugani
Renata
R
Lorini
D001323:Autoantibodies / Q000097:blood*; D001786:Blood Glucose / Q000378:metabolism; D002648:Child; D003924:Diabetes Mellitus, Type 2 / Q000097:blood / Q000235:genetics* / Q000276:immunology*; D005260:Female; D005500:Follow-Up Studies; D005820:Genetic Testing; D005941:Glucokinase / Q000235:genetics*; D005951:Glucose Tolerance Test; D006442:Glycated Hemoglobin / Q000378:metabolism; D006801:Humans; D006943:Hyperglycemia / Q000097:blood / Q000235:genetics / Q000276:immunology; D007328:Insulin / Q000097:blood; D050417:Insulin-Secreting Cells / Q000276:immunology*; D008715:Methionine; D017354:Point Mutation; D011236:Prediabetic State / Q000097:blood / Q000235:genetics / Q000276:immunology; D013912:Threonine
D001323:Autoantibodies; D001786:Blood Glucose; D005941:Glucokinase; D006442:Glycated Hemoglobin; D007328:Insulin; D008715:Methionine; D013912:Threonine; C517652:hemoglobin A1c protein, human