Neonatal Diabetes

Disease characteristics. Permanent neonatal diabetes mellitus (PNDM) is characterized by the onset of hyperglycemia within the first six months of life (mean age: 7 weeks; range: birth to 26 weeks) that does not resolve over time. Clinical manifestations at the time of diagnosis include intrauterine growth retardation (IUGR); hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive.


Approximately 20% of individuals with mutations in KCNJ11 have associated neurologic findings, called the DEND syndrome (developmental delay, epilepsy, and neonatal diabetes mellitus)


a milder form without seizures and with less severe developmental delay is called intermediate DEND syndrome


Pancreatic hypoplasia caused by homozygous PDX1 mutations results in severe insulin deficiency and exocrine pancreatic insufficiency.


Management. Treatment of manifestations: Start rehydration and intravenous insulin 






The five genes currently known to be associated with nonsyndromic PNDM (Autosomal Dominant) are KCNJ11(~30% of PNDM), ABCC8 (~19%), INS (~20%), GCK (~4%), and PDX1 (<1%). Molecular genetic testing is available on a clinical basis for all genes
Some Autosomal Recessive Mutations also exist
Prenatal counselling needs to be done in affected families


Courtesy: http://www.ncbi.nlm.nih.gov/books/NBK1447/


Image courtesy: http://diabetes.diabetesjournals.org/content/57/11/2889.full

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