ESPE Abstracts (2016) 86 P-P1-553

aPediatric Endocrinology Department, Ukrainian Center of Endocrine Surgery of the MOH of Ukraine, Kyiv, Ukraine; bFaculty of Medicine University of Southampton, University Hospital Southampton, Southampton, UK; cUniversity of Exeter Medical School, Exeter, UK

Background: We established a neonatal section of the Ukrainian Pediatric Diabetes Registry (UPDR) to identify cases of neonatal diabetes (ND).

Objective and hypotheses: We investigated the genetic etiology and treatment of patients with ND.

Method: According to the UPDR the number of children (0–17 y.o) with DM1 in 2015 was 8388 (a prevalence of one in 907), with DM2 – 36 (one in 211519) and with ND – 52 (one in 146436). We studied 48 probands with permanent or transient diabetes diagnosed within the first 6 months of life (n=27) and 21 probands with permanent diabetes diagnosed between 6 and 9 months of age. KCNJ11, INS and ABCC8 were sequenced in all patients. For those diagnosed before 6 months who were negative in the initial screening, we also tested for 6q24 and used targeted next generation sequencing (tNGS) to screen other known genes.

Results: We determined the genetic etiology in 28 of 48 (58.3%) probands diagnosed with diabetes before 9 months: in 88.9% of those diagnosed before 6 months and in 19% diagnosed between 6 and 9 months. KATP channel mutations were the commonest cause of ND accounting for 50% of cases. All of these patients transferred from insulin to sulfonylureas (SU). After 1 year of SU treatment all had a HbA1c level <48 mmol/mol (<6.5%), P=0.01. The daily dose of SU after 1 year of treatment decreased to 0.15 [0.08;0.19] mg/kg per day, P=0.03. C-peptide increased from 0.13 [0.06;0.6] to 1.1 [0.5;1.7] ng/ml, P=0.01 (Table 1).

Table 1. Other genetic causes of ND
Onset <6 months (n=27)11.1%7.4%11.1%3.7%3.7%3.7%
Onset 6–9 months (n=21)14.3%

Conclusion: Every child with diabetes onset <9 months should undergo genetic testing for ND. tNGS increased the number of patients with a confirmed genetic etiology of ND.

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