Genetic causes and treatment of neonatal diabetes and early childhood diabetes

Fabrizio Barbetti, Giuseppe D'Annunzio

Research output: Contribution to journalArticlepeer-review


Diabetes mellitus and impaired fasting glucose associated with single gene mutations are less rare than previously thought and may account for more than 6% of patients attending a pediatric diabetes clinic. The number of loci involved in monogenic diabetes exceed 25, and appropriate genetic diagnosis is crucial to direct therapy, for genetic counseling and for prognosis of short- and long-term complications. Among patients with neonatal diabetes (i.e. with onset within first 6 months of life) and patients with Maturity Onset Diabetes of the Young (MODY; an autosomal dominant form of diabetes), those carrying mutations in KCNJ11, ABCC8, HNF1A and HNF4A genes usually respond to oral therapy with sulphonylurea, while those bearing GCK mutations do not necessitate any treatment. Sensor-augmented continuous subcutaneous insulin infusion has been successfully employed in neonatal diabetes, and long-lasting effectiveness of sulfonylurea in KCNJ11 mutation carriers with neonatal diabetes well documented.
Original languageEnglish
Pages (from-to)575-591
Number of pages17
JournalBest Practice and Research in Clinical Endocrinology and Metabolism
Issue number4
Publication statusPublished - Aug 1 2018


  • continuous glucose monitoring (CGM), insulin infusion systems (CSII), maturity onset diabetes of the young, mutation, neonatal diabetes mellitus, sulphonylurea compounds


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