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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
General
neonatal diabetes mellitus
Database Correlations
OMIM 606176
References
OMIM :accession 606176