|
Etiologies of neonatal diabetes |
|
| Transient neonatal diabetes mellitus |
Permanent neonatal diabetes mellitus |
|
|
|
| • Chromosome 6 anomalies detected |
• Heterozygous activating mutation in KCNJ11 gene and in ABCC8 gene (Kir6.2 and SUR1 subunits of the pancreatic KATP channel) |
| - paternal duplications |
|
| - paternal isodisomy |
|
| - Methylation defect |
|
| • ABCC8 (SUR1) and rarely KCNJ11 (Kir6.2) mutations |
• IPEX syndrome: diffuse autoimmunity • Mitochondrial disease • Severe pancreatic hypoplasia associated with IPF1 (PDX1) mutation • Homozygous glucokinase mutation: insensitivity to glucose • Associated with epiphyseal dysplasia: Wolcott Rallison syndrome • Possibly associated with enterovirus infection • Association with cerebellar hypoplasia and PTF1A mutation • Association with hypothyroidism, glaucoma and GLIS3 mutation |
Polak and Cavé Orphanet Journal of Rare Diseases 2007 2:12 doi:10.1186/1750-1172-2-12 |
|