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 therapywith 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.

Barbetti, F., D'Annunzio, G. (2018). Genetic causes and treatment of neonatal diabetes and early childhood diabetes. BAILLIERE'S BEST PRACTICE & RESEARCH. CLINICAL ENDOCRINOLOGY & METABOLISM, 32(4), 575-591 [10.1016/j.beem.2018.06.008].

Genetic causes and treatment of neonatal diabetes and early childhood diabetes

Barbetti, F
;
2018-06-25

Abstract

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 therapywith 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.
25-giu-2018
Pubblicato
Rilevanza internazionale
Articolo
Comitato scientifico
Settore MED/13 - ENDOCRINOLOGIA
English
Barbetti, F., D'Annunzio, G. (2018). Genetic causes and treatment of neonatal diabetes and early childhood diabetes. BAILLIERE'S BEST PRACTICE & RESEARCH. CLINICAL ENDOCRINOLOGY & METABOLISM, 32(4), 575-591 [10.1016/j.beem.2018.06.008].
Barbetti, F; D'Annunzio, G
Articolo su rivista
File in questo prodotto:
File Dimensione Formato  
BP&R Clin Endo&Metab.pdf

solo utenti autorizzati

Licenza: Copyright dell'editore
Dimensione 644.56 kB
Formato Adobe PDF
644.56 kB Adobe PDF   Visualizza/Apri   Richiedi una copia

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/208516
Citazioni
  • ???jsp.display-item.citation.pmc??? 17
  • Scopus 33
  • ???jsp.display-item.citation.isi??? 32
social impact