[TNF-α and soluble receptor TNF-α type 1 in children with diabetes mellitus type 1]. / TNF-α i rozpuszczalna forma receptora TNF-α typu 1 u dzieci z cukrzyca typu 1

INTRODUCTION: TNF-α, and its soluble form sTNFR1, as proinflammatory hormone plays a great role in pathogenesis of auto immunological diseases, insulin resistance, both carbohydrates and fat metabolism and development of late complications in type 1 diabetes mellitus (DMT1) patients. AIM OF THE STUDY: To asses TNF-α and sTNFR1 levels in children with DMT1 and to analyze the correlation with anthropometric parameters, metabolic control and the influence of the kind of insulin therapy. MATERIAL AND METHODS: 67 patients, aged from 3.71 to 14.81 years (mean±SD: 10.33±2.21). All the children were prepubertal (T ≰2), suffering for DMT1, without any coexisting diseases. The duration of the disease varied from 1.83 to 9 years (mean±SD: 4,0±1,6), and the age at diagnosis oscillated between 1.84 to 10.81 years. All the patients were divided into subgroups according to the kind of therapy which was not changed in the last 6 months. 15 agematched healthy children were included into the study. There were no statistically significant differences between the groups as to the metabolic control, age, weight, height and BMI. RESULTS: TNF-α levels in the study group ranged from 0.30 to 14.20 ng/ml (mean±1.62 ± 0.41 pg/ml) and were lower than in the control group: from 0.20 to 19.00 pg/ml (mean±SD: 1.67±1.41 pg/ml) (p >0.05). The highest TNF-α levels were observed in the insulin pump group, lower in the multiple insulin injection group and in the conventional insulin therapy group. The sTNFR1 in the study group ranged from 707.00 to 1646.00 pg/ml (mean±SD: 1028.18±181.24 pg/ml) and was higher than in the control group: 613.0 to 1310.00 pg/ml (mean±SD: 978.00±203.03 pg/ml) (p >0.05). The highest sTNFR1 levels were observed in the insulin pump group, lower in the multiple insulin injection group and the lowest in the conventional insulin therapy group. CONCLUSIONS: TNF-α levels are lower in DMT1 children, correlate only with height and do not depend on the kind of insulin therapy. sTNFR1 levels are higher in children with DMT1, correlate with anthropometric parameters and do not depend on the kind of insulin therapy.

[Glucokinase gene mutation as a causative factor of permanent neonatal diabetes mellitus]. / Mutacja w genie glukokinazy jako przyczyna utrwalonej cukrzycy noworodkowej.

INTRODUCTION: The most frequent type of diabetes in childhood is type 1 diabetes. Thanks to the development of genetic testing, the rare monogenic forms of that disease have been defined. One of them is neonatal diabetes identified within the first 6 months of life and often associated with the mutation in KCNJ11, ABCC8 or insulin gene. A less frequent mutation in the glucokinase gene can cause both permanent neonatal diabetes as well as mild diabetes MODY 2. CASE REPORT: A 33-day-old boy admitted to hospital because of hyperglycemia from the first day of life. Treatment with intravenous infusion of insulin since 5 days of life. A child born out of the first pregnancy in the 37th week of gestation, with hypotrophy symptoms. The pregnancy had been complicated by gestational diabetes. Birth weight 2030 g. Insulin and c-peptide level significantly below normal. Immunologic markers of type 1 diabetes were negative. A continuous subcutaneous insulin infusion using a personal insulin pump was begun in the 60th day of life. Irregularities in the economy of carbohydrates were found in the parents. A double mutation in the glucokinase gene in genetic testing explained the cause of neonatal diabetes. The boy had inherited from his parents two different mutations in glucokinase gene: from the mother S384L and from the father T207M. He is a complex heterozygote. CONCLUSIONS: Genetic diagnosis helped determine the cause of neonatal diabetes in the child and MODY 2 diabetes in the parents. Personal insulin pump therapy is the most effective treatment in children during infancy.