permanent neonatal diabetes mellitus (PNDM); permanent diabetes mellitus of infancy (PDMI)

Epidemiology

• rare form of diabetes mellitus

Genetics

• associated with defects in ABCC8
• associated with defects in KCNJ11

Clinical manifestations

• insulin-requiring hyperglycemia
• diagnosis within the first months of life

Laboratory

• serum glucose high (see diabetes mellitus type 1)
• KCNJ11 gene mutation

Management

• permanent neonatal diabetes requires lifelong insulin therapy

More general terms

• neonatal diabetes mellitus

Database

• OMIM: https://mirror.omim.org/entry/606176