To read the full abstract: Diabetes Care. 2020 Apr 9. pii: dc190324. doi: 10.2337/dc19-0324. [Epub ahead of print]. PMID: 32273272
TransientNeonatalDiabetes (TNDM) develops in the first six months of life, and then remits only to relapse again during adolescence and adulthood. The three main genetic causes of TNDM are: 1) 6q24 abnormalities, 2) activating mutations in genes encoding the ATP-sensitive potassium (KATP) channel subunits KCNJ11 (KIR6.2) and ABCC8 (SUR1) and 3) mutations in the pre-proinsulin (INS) gene. No study has assessed the long-term metabolic profile and educational outcomes in patients with TNDM.
Therefore, this study was undertaken to assess the long-term metabolic and socio-educational outcomes of individuals with TNDM history, and also their relatives carrying the same genetic abnormalities. Although the number of patients in the three genetic sub-groups (6q24, ABCC8 and KCNJ11 mutations) was low, relapse rates were high in all groups. The study found that the underlying genetic defect did not predict relapse of diabetes in TNDM participants, nor the occurrence of diabetes in relatives. The underlying genetic defects were not associated with insulin responses to glucose or to arginine stimuli in adulthood. TNDM participants had learning difficulties and a lower educational attainment than the general population. They were significantly more often outside the labor market but did not differ for other socioeconomic status parameters.
These observations have important clinical implications for the management and follow up of TNDM patients. As the relapse rate was high in all subgroups, all patients with TNDM should have regular HBA1c (2 yearly in childhood and yearly in adolescence) as well as an oral glucose tolerance test in adolescence. During childhood, close attention should be directed to education and neurodevelopmental milestones in TNDM patients with or without later diabetes.