Clinical, genetic and follow-up analysis of newly diagnosed diabetic ketoacidosis in children and adolescents

ObjectiveTo analyze the clinical features, genetics and follow-up outcomes of newly diagnosed diabetic ketoacidosis(DKA) in children and adolescents.

MethodsThe clinical and follow-up data of 23 newly diagnosed DKA patients were retrospectively analyzed.Those who were willing to undergo gene examination were given second-generation sequencing.

ResultsAmong the 23 patients, there were 6 males and 17 females with a median age of 10.1 years.There were 22 cases of type 1 diabetes mellitus(T1DM) and 1 case of type 2 diabetes mellitus(T2DM).There were 22 cases of polydipsia, 16 cases of prolonged breathing, 12 cases of abdominal pain, nausea and vomiting, 5 cases of fever, 12 cases of disturbance of consciousness and 15 cases of shock.The median random blood glucose was 25.0 mmol/L(11.48-34.72 mmol/L), and the mean HbA1c was 13.62%(9.80%-17.40%).The C peptide decreased in 22 cases, the level of which was 0.18 ng/mL(0.05-0.37 ng/mL).The mean of venous pH was 7.06(6.80-7.23), and the diabetes autoantibody in 10 patients were positive.All children were treated with fluid rehydration and continuous intravenous pumping of low-dose insulin.One case was transferred to hospital, and 22 cases were successfully rescued.After DKA correction, T1DM patients were treated with insulin, and T2DM patients were treated with metformin orally.Eighteen patients were followed up for an average of 26.5 months(5-57 months).The HbA1c was 6.8% in 1 patient with T2DM, and 8.79%(5.5%-14.4%) in 17 patients with T1DM.The median C-peptide was 0.09 ng/mL(0.05-0.50 ng/mL).The diabetes autoantibody in 3 T1DM children were positive.The second-generation sequencing in two children with T1DM were performed, the c.20_21delGA heterozygous deletion mutation in exon 2 of PDE11A in 1 cases was found, which leaded to the reading frame changes and protein truncation(p.Arg7ThrfsTer30).The father was wild-type, and the mother was heterozygous carrier.

ConclusionsThe newly diagnosed DKA in children and adolescents is mostly found in T1DM, with various clinical manifestations and low HbA1c compliance rate.The PDE11A gene mutation may be related to T1DM.