Table 1 Etiologies of neonatal diabetes
From: Neonatal diabetes mellitus: a disease linked to multiple mechanisms
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 |