Background: Neonatal Diabetes Mellitus (NDM), a rare genetic condition, mostly caused by mutations in genes encoding the beta-cell-KATP-channel, is characterized by hyperglycemia requiring insulin therapy in the first 6 months of life.
Recent studies indicate that within consanguineous Arab populations the commonest etiologies for NDM differ from the ones in Caucasians[i][ii].
Objective: Characterizing the significant therapeutic challenges and the genotype of an SGA infant (1.1Kg) with early NDM of consanguineous Palestinian parents.
Methods and Results: Homozygosity mapping revealed that 3 genes (INS, SLC19A2, RFX6) causing NDM are included within large homozygous segments in the patient’s DNA. Insulin gene sequencing was normal.
Therapeutically, the thin subdermal fat tissue limited the use of insulin pump or continuous glucose monitoring. Oral hypoglycemic agents were unhelpful. 3 daily doses of Long Acting Insulin Analogues (LAIA) achieved optimal glycemic control.
Conclusion: NDM in low birth weight infants is a difficult therapeutic challenge. A genetic diagnosis is mandatory but empiric trial of oral hypoglycemic agents may be beneficial and should not be delayed. If insulin is required LAIA in few daily doses are the optimal choice.
[i] Habeb AM, Flanagan SE, Deeb A, Al-Alwan I, Alawneh H, Balafrej AA, Mutair A, Hattersley AT, Hussain K, Ellard S. Permanent neonatal diabetes: different aetiology in Arabs compared to Europeans. Arch Dis Child. 2012 Aug;97(8):721-3. doi: 10.1136/archdischild-2012-301744.
[ii] Habeb AM, Al-Magamsi MS, Eid IM, Ali MI, Hattersley AT, Hussain K, Ellard S.
Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia. Pediatr Diabetes. 2012 Sep;13(6):499-505.
