[Diabetic ketoacidosis with a fatal issue: is it a MODY3 (maturity-onset diabetes of the young type 3)?].
Ketoacidotic coma is one of the possible diabetes mellitus first symptoms. It results from complete or relative lack of insuline and is often associated with type 1 diabetes. The authors report a case of a 45-years old woman with inaugural diabetes of which atypical features have motivated the study of MODY gene (maturity-onset diabetes of the young). Gly574ser polymorphism in the HNF-1alpha gene was found, in homozygous state, and the question of the responsibility of this polymorphism in this diabete is asked.
Dehan
C
C
Laboratoire de biochimie, Hôpital d'instruction des Armées Robert Picqué, Bordeaux.
Tran Van
D
D
Delacour
H
H
Deroudilhe
G
G
Fritsch
N
N
Chiappini
J
J
Dardare
E
E
Gardet
V
V
D003922:Diabetes Mellitus, Type 1 / Q000175:diagnosis / Q000235:genetics; D003924:Diabetes Mellitus, Type 2 / Q000175:diagnosis / Q000235:genetics; D003926:Diabetic Coma; D016883:Diabetic Ketoacidosis / Q000175:diagnosis / Q000235:genetics; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D005998:Glycine / Q000235:genetics; D051538:Hepatocyte Nuclear Factor 1-alpha / Q000235:genetics; D051557:Hepatocyte Nuclear Factor 4 / Q000235:genetics; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D011110:Polymorphism, Genetic; D011379:Prognosis
C496487:HNF1A protein, human; C496592:HNF4A protein, human; D051538:Hepatocyte Nuclear Factor 1-alpha; D051557:Hepatocyte Nuclear Factor 4; D005998:Glycine