Nataša Rojnić Putarek

Incidence of type 1 diabetes mellitus in 0 to 14‐yr‐old children in Croatia – 2004 to 2012 study

The incidence of type 1 diabetes mellitus (T1DM) among children and adolescents increased during the last 50 yr. The T1DM incidence in Croatia was 8.87/100.000/yr over 1995–2003, with an annual increase of 9%, which placed Croatia among countries with moderate risk for T1DM.

Primary hypothyroidism and nipple hypoplasia in a girl with Wolcott–Rallison syndrome

Wolcott–Rallison syndrome (WRS), caused by mutation in the EIF2AK3 gene encoding the PERK enzyme, is the most common cause of permanent neonatal diabetes mellitus (PNDM) in consanguineous families and isolated populations. Besides PNDM, it also includes skeletal abnormalities, liver and renal dysfunction, and other inconsistently present features. We present two siblings, who are WRS patients, and are Albanians from Kosovo born to unrelated parents. The older sister presented with PNDM, exocrine pancreatic insufficiency, short stature, microcephaly, normocytic anemia, delay in speech development, skeletal abnormalities, primary hypothyroidism, and hypoplastic nipples. Sequencing of the EIF2AK3 gene identified a homozygous mutation R902X in exon 13. The younger brother was diagnosed with PNDM and died from hepatic failure suggesting that he has been suffering from WRS as well. Including one previously reported patient from Kosovo carrying the same homozygous mutation, there are three WRS patients from this very small, ethnically homogenous region suggesting founder effect in this population. Conclusion: We postulate that thyroid hypoplasia with primary subclinical hypothyroidism already reported in two WRS patients and nipple hypoplasia could also be the phenotypic reflection of the mutation of pleiotropic EIF2AK3 gene in secretory cells.

Human Leukocyte Antigen class II polymorphisms among Croatian patients with type 1 diabetes and autoimmune polyglandular syndrome type 3 variant

This study included 161 patients: 92 patients had type 1 diabetes (T1D) while 69 patients had a combination of T1D and autoimmune thyroiditis, the so-called autoimmune polyglandular syndrome type 3 variant (APS3v). Those patients, as well as 93 controls, were typed for HLA-DRB1 and -DQB1 genes to assess their possible contribution to the development/protection of T1D with/without autoimmune thyroiditis. Both HLA-DRB1*04 and -DRB1*03 frequencies were significantly higher among T1D and APS3v patients than in controls. The frequencies of HLA-DRB1*11 and -DRB1*15 were lower among T1D patients, while HLA-DRB1*07 and -DRB1*11 occurred significantly less frequently among APS3v patients in comparison to controls. HLA-DQB1*03:01 and -DQB1*03:02 were associated with a higher risk of developing T1D and APS3v; HLA-DQB1*02 was significantly more present among APS3v patients while HLA-DQB1*03:03 was observed with a significantly lower frequency only among T1D patients. HLA-DRB1*03~DQB1*02 and HLA-DRB1*04~DQB1*03:02 were associated with both diseases. The higher frequency of HLA-DRB1*03/DRB1*03 among APS3v patients was the only significant difference in genotype frequency when compared to T1D patients, while high risk (HLA-DRB1*03/DRB1*04) and medium risk genotypes for T1D (HLA-DRB1*04/DRB1*04) occurred with similar frequencies in both patient groups. Although some of the results point toward shared genetic susceptibility of T1D and APS3v, observed differences in both susceptible/protective HLA profiles indicate the necessity of further studies in order to elucidate the pathogenesis of these diseases.

Type 1 diabetes from adolescence to adulthood: is there a permanent need for nutrition education and reeducation?

BACKGROUND The transition for type 1 diabetes patients from pediatric to adult diabetology care is challenging process for both medical team and patients. Adult diabetology usually insists on stricter goals and focuses on increased empowerment and self-care. We set to find a more practical and effective way to determine patient knowledge and skills during the transition. The aim of the study was to identify screening questions which best represent knowledge in management of type 1 diabetes and to explore the differences in the effect of a structured educational program for type 1 diabetes patient diagnosed in childhood versus adulthood. METHODS It was an observational study exploring effect of a structured educational program for 39 participants diagnosed with type 1 diabetes in childhood (group 1) vs. 20 patients diagnosed in adulthood (group 2). Main outcome measures were A1C and knowledge questionnaire results change before and after education. RESULTS The effect of education was equal in both groups, with higher basal level of knowledge in group 1. There was a significant correlation between questions regarding carbohydrate counting and A1C after 3 and 6-12 months in group 1. We found that questions regarding carbohydrate counting may predict glycemic control and represent general knowledge. CONCLUSIONS Carbohydrate counting is crucial in predicting glycemic control and representing general knowledge about diabetes. Patients diagnosed in childhood may be more knowledgeable in diabetes management, but their practical skill in matching insulin dose and carbohydrate content is poor. Both groups improved their knowledge in similar proportion with same educational program.