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Objective Transient neonatal diabetes mellitus (TNDM) is caused by activating mutations in ABCC8 and KCNJ11 genes (KATP/TNDM) or by chromosome 6q24 abnormalities (6q24/TNDM). We wanted to assess whether these different genetic aetiologies result in distinct clinical features. Design Retrospective analysis of the Italian data set of patients with TNDM. Methods Clinical features and treatment of 22 KATP/TNDM patients and 12 6q24/TNDM patients were compared. Results Fourteen KATP/TNDM probands had a carrier parent with abnormal glucose values, four patients with 6q24 showed macroglossia and/or umbilical hernia. Median age at diabetes onset and birth weight were lower in patients with 6q24 (1 week; −2.27 SD) than those with KATP mutations (4.0 weeks; −1.04 SD) (P = 0.009 and P = 0.007, respectively). Median time to remission was longer in KATP/TNDM than 6q24/TNDM (21.5 weeks vs 12 weeks) (P = 0.002). Two KATP/TNDM patients entered diabetes remission without pharmacological therapy. A proband with the ABCC8/L225P variant previously associated with permanent neonatal diabetes entered 7-year long remission after 1 year of sulfonylurea therapy. Seven diabetic individuals with KATP mutations were successfully treated with sulfonylurea monotherapy; four cases with relapsing 6q24/TNDM were treated with insulin, metformin or combination therapy. Conclusions If TNDM is suspected, KATP genes should be analyzed first with the exception of patients with macroglossia and/or umbilical hernia. Remission of diabetes without pharmacological therapy should not preclude genetic analysis. Early treatment with sulfonylurea may induce long-lasting remission of diabetes in patients with KATP mutations associated with PNDM. Adult patients carrying KATP/TNDM mutations respond favourably to sulfonylurea monotherapy.

The aim of this study is to investigate if a non-prescriptive diet plan in young children with type 1 diabetes mellitus is unfavourable in comparison with classic prescriptive diet plan, paying particular attention to glycemic control, lipid profile and body mass index.We carried out a longitudinal and 8-year retrospective study based on a well-defined cohort of children aged18 years with type 1 diabetes followed-up every three months from our Unit beginning from 1999 to 2007. The study included a total of 49 patients with type 1 diabetes aged 16-19 years, the mean duration of diabetes was 13 +/- 4 years. During the study all the patients continued to receive flexible multiple daily injection insulin therapy according to basal-bolus plan. In order to investigate the lipid profile we collected total cholesterol, LDL, HDL and triglyceride levels once a year and to asses the metabolic control in diabetic patients, blood samples were collected for assay of HbA1c every three months all years during the study.No abnormalities about lipid profile were observed during the analysed years. LDL, HDL, total cholesterol and triglyceride values were normal and their trend was uniform and lower than the normal range of general people.These outcomes showed no differences between diabetics and normal people at risk to develop metabolic alterations. Non-prescriptive diet plan in children with insulin dependent diabetes mellitus is not unfavourable in comparison with classic prescriptive diet-plan, in particular with regard to the metabolic control which reflect the international data of reference.

Aim of this work is to give a realistic picture of the medical care situation in Italy and to verify its congruence with ISPAD and SIEDP guidelines and the law. In Italy diabetes is recognized as a disease of great social interest by a state act. Sixteen years after its approval, all of the Italian Regions have received the law n. 115/87 with the different acts. Nearly all regional acts provide for both the institution of specialized centres of paediatric diabetology and their individuation at local level. In Italy diabetological paediatric care is well distributed all over the national territory. Activities are operating in almost every region. Actually a lot of paediatric diabetology activities have no formal recognition and no operating autonomy and sometimes the person in charge of the activity is not a diabetologist paediatrician. In spite of what stated by ISPAD and SIEDP guidelines, this is the real situation. Perhaps in the future a larger presence of scientific societies involved in problems concerning sanitary politics about diabetes, will bring to an appreciable improvement of the quality of care system of paediatric diabetology.

Two fundamental acts: "Provisions for the prevention and the cure of the diabetes mellitus" of 1987 and "Convention on the rights of the child, New York, 20 November 1989" of 1991, are a clear reference to the many laws promulgated in Italy protecting the special needs of children and adolescents with diabetes. In particular these acknowledge and emphasize the social value of the disease, the importance of the relationship with families and the infrequent need of hospital treatments. To give adequate answers to the need of self-management, it is essential to involve an integrated multidisciplinary team, adequately formed in order to supply an educational therapeutic intervention, based on medical aid and oriented on psycho pedagogy and social assistance. Cooperation and integration among health services of the territory, hospitals and social services for the complete protection of patients with diabetes--not only of their disease--are therefore necessary. Adequate laws can perhaps influence the quality of treatment and the quality of life in children with diabetes.