Entities and frequency of neonatal diabetes: data from the diabetes documentation and quality management system (DPV)

Abstract

Aims The aim of this study was to elucidate the entities and the frequency of neonatal diabetes mellitus (NDM) in a large representative database for paediatric diabetes patients in Germany and Austria.Methods Based on the continuous diabetes data acquisition system for prospective surveillance (DPV), which includes 51 587 patients with onset of diabetes before the age of 18 years from 299 centres in Germany and Austria, we searched for patients with onset of diabetes mellitus in the first 6 months of life.Results Ninety patients were identified, comprising 0.17% of all paediatric cases in the DPV registry. This represented an incidence of approximately one case in 89 000 live births in Germany. A monogenic basis for NDM was established in 30 subjects (seven UPD6, 10 KCNJ11, seven ABCC8, two FOXP3, two PDX1, one INS, one EIF2AK3). Pancreatic hypoplasia or agenesis was reported in 10 patients and seven subjects were classified as having Type 1 diabetes by their centres. Transient neonatal diabetes (TNDM) accounted for approximately 10% of all cases with NDM. No aetiology was defined in 41 subjects, which may reflect incomplete genetic testing or novel genetic aetiologies.Conclusion Based on a large database, we identified a higher rate of NDM in Germany than has been reported previously. Full molecular genetic testing should be performed in all patients diagnosed before 6 months of age.Diabet. Med. 27, 709-712 (2010)

Two Novel GATA6 Mutations Cause Childhood-Onset Diabetes Mellitus, Pancreas Malformation and Congenital Heart Disease

“…The incidence of neonatal diabetes in Germany is approximately 1 case in 89,000 live births, and among those approximately 9% had abnormalities of pancreatic development resulting in an overall incidence of less than 1 case in 800,000 [29]. In our present cohort of 8 patients, we found a lower frequency of cases with GATA6 mutations (2 of 8) than that shown in the previous study by Allen et al [7].…”

Glycemic control indicators in patients with neonatal diabetes mellitus

“…The frequency of NDM according to this definition is 1 in 89000 births, showing that NDM is a rare disease [8] . So far, more than 20 causative genes of NDM have been discovered; genetic mutations of some kind have been identified in not less than 70% of patients [8,9] .…”

“…The frequency of NDM according to this definition is 1 in 89000 births, showing that NDM is a rare disease [8] . So far, more than 20 causative genes of NDM have been discovered; genetic mutations of some kind have been identified in not less than 70% of patients [8,9] . NDM is similar to type 1 diabetes mellitus in terms of the form of development (diabetes mellitus develops acutely); however, type 1 diabetes mellitus very rarely develops within 6 mo after birth, judging from studies on the frequency of human leukocyte antigen risk alleles and the presence of pancreatic autoantibodies [10,11] .…”

Management of diabetes mellitus in infants

“…The higher prevalence of celiac disease and IgA deficiency in infants with diabetes mellitus compared with older children points to environmental factors predisposing to β-cell auto immunity in the context of a leaky intestinal mucosal barrier and altered intestinal immune responsiveness. 2,61 Epidemiology NDM is diagnosed during the first 6 months of life with an incidence of 1:89,000 live births when both TNDM and PNDM are considered 49 and with an incidence from 1:210,000 to 1:260,000 for PNDM alone. 22,27 The increased frequency of newly diagnosed NDM over the past decade might partially reflect increased survival or investi gation rates.…”

“…47 However, in several cases of PNDM, extended molecular genetic analyses could not identify the underlying cause of pancreas hypoplasia or agenesis. 48,49 Type 1 diabetes mellitus T1DM is a chronic T-cell-mediated disease that leads to destruction of the β cells within the pancreas. Infiltration of pancreatic islets by lymphocytes causes a variable rate of insulitis, with progressive loss of β-cell function.…”