A Newborn with Transient Diabetes Mellitus Accompanied by Ketoacidosis Attributable to a ZFP57 Mutation.
Hyperglycemia commencing within the first 6 months of life requires exogenous insulin therapy and, if the condition persists for >2 weeks, is termed neonatal diabetes mellitus (NDM). This rare illness is of two types: transient and permanent NDM. Most cases come to medical attention because of nonspecific symptoms, including intrauterine growth retardation, dehydration, difficulties in feeding and inadequate weight gain. In the present article, we describe an infant who smelt of ketones during examination and who was diagnosed with transient NDM caused by a ZFP57 mutation, accompanied by ketoacidosis. This is the first report of such a condition.
Department of Neonatology, Etlik Zubeyde Hanim Women's Health Teaching and Research Hospital, Ankara 06010, Turkey.
Fatma
F
Iyigun
Department of Neonatology, Konya Teaching and Research Hospital, Konya 42090, Turkey.
Beyza
B
Ozcan
Department of Neonatology, Etlik Zubeyde Hanim Women's Health Teaching and Research Hospital, Ankara 06010, Turkey.
Ferit
F
Kulali
Department of Neonatology, Etlik Zubeyde Hanim Women's Health Teaching and Research Hospital, Ankara 06010, Turkey.
Istemi Han
IH
Celik
Department of Pediatric Endocrinology, Dr. Sami Ulus Children Health and Disease Training and Research Hospital, Ankara 06080, Turkey.
Semra
S
Cetinkaya
Department of Neonatology, Etlik Zubeyde Hanim Women's Health Teaching and Research Hospital, Ankara 06010, Turkey.
Ahmet Yagmur
AY
Bas
Department of Neonatology, Etlik Zubeyde Hanim Women's Health Teaching and Research Hospital, Ankara 06010, Turkey.
Nihal
N
Demirel
D004268:DNA-Binding Proteins; D003681:Dehydration / Q000209:etiology; D003920:Diabetes Mellitus / Q000175:diagnosis* / Q000235:genetics; D016883:Diabetic Ketoacidosis / Q000151:congenital / Q000175:diagnosis* / Q000188:drug therapy; D005260:Female; D006801:Humans; D006943:Hyperglycemia / Q000188:drug therapy; D007004:Hypoglycemic Agents / Q000627:therapeutic use; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis* / Q000235:genetics; D007328:Insulin / Q000008:administration & dosage / Q000627:therapeutic use; D008297:Male; D009154:Mutation; D012097:Repressor Proteins; D014157:Transcription Factors
D004268:DNA-Binding Proteins; D007004:Hypoglycemic Agents; D007328:Insulin; D012097:Repressor Proteins; D014157:Transcription Factors; C531063:ZFP57 protein, human
ZFP57 gene mutation; ketoacidosis; transient neonatal diabetes mellitus